M373K (p.Met373Lys) variant of PCCA (P05165)
M373K (p.Met373Lys) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M373K (p.Met373Lys) variant details
- p.Met373Lys
- rs121964958
- ClinGen CA278126
- ClinVar RCV000012804
- ClinVar RCV006697987
- Pathogenic
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the East Asian population (allele frequency 0.00019)
- 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)