R19H (p.Arg19His) variant of MMAB (Q96EY8)
R19H (p.Arg19His) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs10774775
- ClinGen CA6779078
- cosmic curated COSV57169
- ClinVar RCV000247935
- Benign
- not specified; not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 23.80
- PolyPhen-2 0.56
- SIFT 0.01
- ClinVar: Benign (not specified; not provided; Methylmalonic aciduria, cblB type)
- EBI: Benign (in dbSNP:rs10774775)
- UniProt: Benign (in dbSNP:rs10774775)
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)