G125S (p.Gly125Ser) variant of MMAB (Q96EY8)
G125S (p.Gly125Ser) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G125S (p.Gly125Ser) variant details
- p.Gly125Ser
- rs193015172
- ClinGen CA6778930
- cosmic curated COSV99904
- ClinVar RCV000642153
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 22.60
- PolyPhen-2 0.57
- SIFT 0.06
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)