S174L (p.Ser174Leu) variant of MMAB (Q96EY8)
S174L (p.Ser174Leu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of MMAB-related disorder; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S174L (p.Ser174Leu) variant details
- p.Ser174Leu
- rs140881518
- ClinGen CA6778842
- cosmic curated COSV10608
- ClinVar RCV000671507
- Likely pathogenic
- MMAB-related disorder; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (MMAB-related disorder; Methylmalonic aciduria, cblB type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)