Y49S (p.Tyr49Ser) variant of MFN2 (Mitofusin-2)
Y49S (p.Tyr49Ser) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y49S (p.Tyr49Ser) variant details
- p.Tyr49Ser
- gnomAD 1-11989314-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.08
- CADD 27.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available