R17C (p.Arg17Cys) variant of PCCA (P05165)
R17C (p.Arg17Cys) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- gnomAD 13-100089169-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 22.80
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available