S134L (p.Ser134Leu) variant of MMAB (Q96EY8)
S134L (p.Ser134Leu) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S134L (p.Ser134Leu) variant details
- p.Ser134Leu
- rs138708209
- ClinGen CA6778921
- cosmic curated COSV57171
- ClinVar RCV001110623
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 24.30
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)