A30E (p.Ala30Glu) variant of PCCA (P05165)
A30E (p.Ala30Glu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- gnomAD 13-100089209-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.70
- PolyPhen-2 0.48
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available