R22Q (p.Arg22Gln) variant of MMAA (Q8IVH4)
R22Q (p.Arg22Gln) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs375682603
- ClinGen CA3095114
- cosmic curated COSV55580
- ClinVar RCV001979024
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)