R22C (p.Arg22Cys) variant of PCCB (P05166)
R22C (p.Arg22Cys) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- rs771117263
- ClinGen CA2631563
- ClinVar RCV002604509
- ExAC rs771117263
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.35
- ESM-1b 0.31
- AlphaMissense 0.28
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)