S133F (p.Ser133Phe) variant of MMAB (Q96EY8)
S133F (p.Ser133Phe) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S133F (p.Ser133Phe) variant details
- p.Ser133Phe
- rs749936057
- ClinGen CA6778922
- ClinVar RCV000668683
- ExAC rs749936057
- Conflicting interpretations
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 26.10
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)