G15R (p.Gly15Arg) variant of PCCA (P05165)
G15R (p.Gly15Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- gnomAD 13-100089163-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 14.20
- PolyPhen-2 0.02
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available