C21S (p.Cys21Ser) variant of MMAB (Q96EY8)
C21S (p.Cys21Ser) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C21S (p.Cys21Ser) variant details
- p.Cys21Ser
- rs763383858
- ClinGen CA312720
- cosmic curated COSV57170
- ClinVar RCV002024925
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.80
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0018)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)