F83S (p.Phe83Ser) variant of MMAB (Q96EY8)
F83S (p.Phe83Ser) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F83S (p.Phe83Ser) variant details
- p.Phe83Ser
- rs1185132313
- ClinGen CA386639576
- ClinVar RCV001304679
- TOPMed rs1185132313
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)