A9S (p.Ala9Ser) variant of PCCA (P05165)
A9S (p.Ala9Ser) 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.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 13-100089145-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.12
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available