V6I (p.Val6Ile) variant of PCCA (P05165)
V6I (p.Val6Ile) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- 1000Genomes rs568542767
- ExAC rs568542767
- TOPMed rs568542767
- gnomAD rs568542767
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available