H29R (p.His29Arg) variant of MMAA (Q8IVH4)
H29R (p.His29Arg) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- rs367809749
- ClinGen CA3095119
- ClinVar RCV001278249
- ESP rs367809749
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 3.85
- PolyPhen-2 0.00
- SIFT 0.38
- 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)