R13M (p.Arg13Met) variant of PCCB (P05166)
R13M (p.Arg13Met) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R13M (p.Arg13Met) variant details
- p.Arg13Met
- gnomAD 3-136250413-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 20.80
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available