A2S (p.Ala2Ser) variant of PCCB (P05166)
A2S (p.Ala2Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 3-136250379-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.38
- ESM-1b 0.09
- AlphaMissense 0.13
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available