A14V (p.Ala14Val) variant of PCCA (P05165)
A14V (p.Ala14Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 13-100089161-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 8.50
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available