W5R (p.Trp5Arg) variant of PCCA (P05165)
W5R (p.Trp5Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
W5R (p.Trp5Arg) variant details
- p.Trp5Arg
- gnomAD 13-100089133-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.00
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available