A85V (p.Ala85Val) variant of MMAB (Q96EY8)
A85V (p.Ala85Val) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- rs770743560
- ClinGen CA6778999
- ClinVar RCV001112608
- ExAC rs770743560
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 26.90
- PolyPhen-2 0.46
- SIFT 0.05
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00034)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)