V6F (p.Val6Phe) variant of PCCA (P05165)
V6F (p.Val6Phe) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V6F (p.Val6Phe) variant details
- p.Val6Phe
- 1000Genomes rs568542767
- ExAC rs568542767
- TOPMed rs568542767
- gnomAD rs568542767
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.70
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.01)
- Structural context available