V12A (p.Val12Ala) variant of MFN2 (Mitofusin-2)
V12A (p.Val12Ala) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD 1-11989203-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.42
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available