P22Q (p.Pro22Gln) variant of PCCA (P05165)
P22Q (p.Pro22Gln) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P22Q (p.Pro22Gln) variant details
- p.Pro22Gln
- gnomAD 13-100089185-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available