PVALB

Chr 22

parvalbumin

Also known as: D22S749

NCBI Gene: 5816ENSG00000100362UniProt: P20472

The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…
3
Active trials
66
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.36
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.36LOEUF
pLI 0.087
Z-score 1.10
OE 0.44 (0.18–1.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.04Z-score
OE missense 0.99 (0.80–1.22)
61 obs / 61.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.18–1.36)
0≤0.351.4
Missense OE?0.99 (0.80–1.22)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 2 / 4.5Missense obs/exp: 61 / 61.8Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PVALB · 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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients