R22G (p.Arg22Gly) variant of PCCB (P05166)
R22G (p.Arg22Gly) in PCCB (P05166) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- ExAC rs771117263
- TOPMed rs771117263
- gnomAD rs771117263
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available