A2V (p.Ala2Val) variant of PCCA (P05165)
A2V (p.Ala2Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs866921443
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available