G215C (p.Gly215Cys) variant of MMUT (P22033)
G215C (p.Gly215Cys) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G215C (p.Gly215Cys) variant details
- p.Gly215Cys
- rs121918258
- ClinGen CA16618294
- ClinVar RCV000478937
- ClinVar RCV000667041
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)