A4S (p.Ala4Ser) variant of PCCB (P05166)
A4S (p.Ala4Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 3-136250385-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.90
- PolyPhen-2 0.94
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available