A22T (p.Ala22Thr) variant of MFN2 (Mitofusin-2)
A22T (p.Ala22Thr) in MFN2 (Mitofusin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- gnomAD rs1178355950
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.65
- AlphaMissense 0.10
- MetaLR 0.95
- MetaSVM 1.06
- CADD 24.70
- PolyPhen-2 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available