W105R (p.Trp105Arg) variant of MMUT (P22033)
W105R (p.Trp105Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W105R (p.Trp105Arg) variant details
- p.Trp105Arg
- rs121918249
- ClinGen CA249727
- ClinVar RCV000001955
- ClinVar RCV000203407
- Pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: 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 7e-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: Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by… (PMID 1977311)