V12V (p.Val12Val) variant of PCCA (P05165)
V12V (p.Val12Val) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- rs375516917
- gnomAD 13-100089156-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.22
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available
- Literature evidence available