P21Q (p.Pro21Gln) variant of PCCA (P05165)
P21Q (p.Pro21Gln) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P21Q (p.Pro21Gln) variant details
- p.Pro21Gln
- gnomAD 13-100089182-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 8.10
- PolyPhen-2 0.17
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available