V6L (p.Val6Leu) variant of PCCA (P05165)
V6L (p.Val6Leu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- gnomAD 13-100089136-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available