M373V (p.Met373Val) variant of PCCA (P05165)
M373V (p.Met373Val) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
M373V (p.Met373Val) variant details
- p.Met373Val
- rs2066053673
- ClinGen CA388695204
- ClinVar RCV002606046
- Ensembl rs2066053673
- Conflicting interpretations
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Propionic acidemia)
- EBI: Likely pathogenic (in PA-1)
- UniProt: Likely pathogenic (in PA-1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)