F4V (p.Phe4Val) variant of PCCA (P05165)
F4V (p.Phe4Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
F4V (p.Phe4Val) variant details
- p.Phe4Val
- cosmic curated COSV66196
- ExAC rs753799002
- gnomAD rs753799002
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0014)
- Structural context available