A9T (p.Ala9Thr) variant of PCCA (P05165)
A9T (p.Ala9Thr) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD 13-100089145-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 9.72
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available