A23D (p.Ala23Asp) variant of PCCB (P05166)
A23D (p.Ala23Asp) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD 3-136250443-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.25
- ESM-1b 0.30
- AlphaMissense 0.14
- CADD 11.40
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available