A30S (p.Ala30Ser) variant of PCCA (P05165)
A30S (p.Ala30Ser) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 13-100089208-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.10
- PolyPhen-2 0.13
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available