P22T (p.Pro22Thr) variant of PCCA (P05165)
P22T (p.Pro22Thr) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- gnomAD 13-100089184-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.91
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available