SAMHD1
Chr 20ADARSAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Also known as: CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1
The SAMHD1 protein functions as a deoxynucleoside triphosphatase that restricts viral replication by depleting cellular dNTP pools and regulates DNA replication fork stability. Mutations cause Aicardi-Goutières syndrome 5, an early-onset interferonopathy presenting with neurologic features, and chilblain lupus 2, with both autosomal recessive and autosomal dominant inheritance patterns reported. This gene is extremely intolerant to loss-of-function variants, indicating its critical cellular role.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SAMHD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools