R22L (p.Arg22Leu) variant of MMAA (Q8IVH4)
R22L (p.Arg22Leu) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- rs375682603
- ClinGen CA3095113
- cosmic curated COSV55579
- ClinVar RCV001278247
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 9.35
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)