S217I (p.Ser217Ile) variant of MMAB (Q96EY8)
S217I (p.Ser217Ile) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
S217I (p.Ser217Ile) variant details
- p.Ser217Ile
- rs2136192612
- ClinGen CA386635775
- ClinVar RCV001527456
- Ensembl rs2136192612
- Pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)