R17G (p.Arg17Gly) variant of PCCA (P05165)
R17G (p.Arg17Gly) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- gnomAD 13-100089169-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available