A29V (p.Ala29Val) variant of PCCA (P05165)
A29V (p.Ala29Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 13-100089206-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available