S126L (p.Ser126Leu) variant of MMAB (Q96EY8)
S126L (p.Ser126Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S126L (p.Ser126Leu) variant details
- p.Ser126Leu
- rs771053425
- ClinGen CA6778929
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99904
- Conflicting interpretations
- Methylmalonic aciduria, cblB type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic aciduria, cblB type; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)