R616H (p.Arg616His) variant of MMUT (P22033)
R616H (p.Arg616His) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Methylmalonic acidemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R616H (p.Arg616His) variant details
- p.Arg616His
- rs1369724342
- ClinGen CA364395313
- ClinVar RCV002019419
- ClinVar RCV003402032
- Conflicting interpretations
- Methylmalonic acidemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.96
- CADD 28.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic acidemia; not provided)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)