D77Y (p.Asp77Tyr) variant of MFN2 (Mitofusin-2)
D77Y (p.Asp77Tyr) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D77Y (p.Asp77Tyr) variant details
- p.Asp77Tyr
- gnomAD 1-11992608-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.55
- MetaLR 0.91
- MetaSVM 1.02
- CADD 25.30
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available