R54K (p.Arg54Lys) variant of MMAB (Q96EY8)
R54K (p.Arg54Lys) 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 0.28 / 1. The record also includes published literature and structural context.
R54K (p.Arg54Lys) variant details
- p.Arg54Lys
- rs2136210801
- ClinGen CA386640376
- ClinVar RCV001359820
- Ensembl rs2136210801
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)