SH3PXD2A
Chr 10SH3 and PX domains 2A
Also known as: FISH, SH3MD1, TKS5
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.30
LOEUF· LoF intol.
LOF
Mechanism· predicted
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.30LOEUF
pLI 0.989
Z-score 5.42
OE 0.16 (0.10–0.30)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
1.56Z-score
OE missense 0.83 (0.78–0.89)
561 obs / 674.9 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.16 (0.10–0.30)
0≤0.351.4
Missense OE?0.83 (0.78–0.89)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 8 / 48.8Missense obs/exp: 561 / 674.9Syn Z: 0.29
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SH3PXD2A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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