K62R (p.Lys62Arg) variant of MMAA (Q8IVH4)
K62R (p.Lys62Arg) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K62R (p.Lys62Arg) variant details
- p.Lys62Arg
- rs1417362612
- ClinGen CA358352013
- ClinVar RCV003086121
- TOPMed rs1417362612
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)