V85A (p.Val85Ala) variant of MFN2 (Mitofusin-2)
V85A (p.Val85Ala) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
V85A (p.Val85Ala) variant details
- p.Val85Ala
- rs1553141664
- ClinGen CA338462020
- ClinVar RCV000520186
- Ensembl rs1553141664
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.65
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available