A9S (p.Ala9Ser) variant of PCCB (P05166)
A9S (p.Ala9Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 3-136250400-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available