A3S (p.Ala3Ser) variant of PCCB (P05166)
A3S (p.Ala3Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 3-136250382-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 20.90
- PolyPhen-2 0.08
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available