R15H (p.Arg15His) variant of MMAB (Q96EY8)
R15H (p.Arg15His) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs367711757
- ClinGen CA6779080
- ClinVar RCV001065308
- ESP rs367711757
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)