A9E (p.Ala9Glu) variant of PCCA (P05165)
A9E (p.Ala9Glu) 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.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD 13-100089146-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 12.30
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available