A14D (p.Ala14Asp) variant of PCCA (P05165)
A14D (p.Ala14Asp) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 13-100089161-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.33
- ESM-1b 0.97
- AlphaMissense 0.15
- CADD 14.50
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available