I69V (p.Ile69Val) variant of MMUT (P22033)
I69V (p.Ile69Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Methylmalonic aciduria due to methylmalonyl-CoA mut. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I69V (p.Ile69Val) variant details
- p.Ile69Val
- rs115923556
- ClinGen CA3847163
- ClinVar RCV000223962
- ClinVar RCV001085527
- Conflicting interpretations
- not specified; not provided; Methylmalonic aciduria due to methylmalonyl-CoA mut
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.54
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Methylmalonic aciduria due to methy)
- EBI: Benign (in MAMM)
- UniProt: Benign (in MAMM)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID 15781192)
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)