S69T (p.Ser69Thr) variant of MMAB (Q96EY8)
S69T (p.Ser69Thr) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S69T (p.Ser69Thr) variant details
- p.Ser69Thr
- rs147297426
- ClinGen CA6779004
- ClinVar RCV001277393
- 1000Genomes rs147297426
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)