A23S (p.Ala23Ser) variant of PCCB (P05166)
A23S (p.Ala23Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 3-136250442-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.11
- PolyPhen-2 0.02
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available