A2E (p.Ala2Glu) variant of PCCA (P05165)
A2E (p.Ala2Glu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 13-100089125-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.52
- ESM-1b 0.03
- AlphaMissense 0.28
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available