R17S (p.Arg17Ser) variant of PCCA (P05165)
R17S (p.Arg17Ser) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- gnomAD 13-100089169-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available