S69N (p.Ser69Asn) variant of MMAB (Q96EY8)
S69N (p.Ser69Asn) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- rs147297426
- ClinGen CA6779003
- ClinVar RCV001478658
- 1000Genomes rs147297426
- Likely benign
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 24.10
- PolyPhen-2 0.32
- SIFT 0.02
- ClinVar: Likely benign (Methylmalonic aciduria, cblB type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)