G631R (p.Gly631Arg) variant of PCCA (P05165)
G631R (p.Gly631Arg) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G631R (p.Gly631Arg) variant details
- p.Gly631Arg
- rs796052018
- ClinGen CA312816
- ClinVar RCV000664489
- UniProt VAR 009100
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel… (PMID 10101253)
- Cited in: Propionic Acidemia. (PMID 22593918)