V86M (p.Val86Met) variant of MMAB (Q96EY8)
V86M (p.Val86Met) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V86M (p.Val86Met) variant details
- p.Val86Met
- rs143935056
- ClinGen CA6778998
- ClinVar RCV001042369
- ESP rs143935056
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.26
- ESM-1b 0.40
- AlphaMissense 0.18
- CADD 13.20
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)