V168F (p.Val168Phe) variant of ETFA (P13804)
V168F (p.Val168Phe) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V168F (p.Val168Phe) variant details
- p.Val168Phe
- ExAC rs779987487
- TOPMed rs779987487
- gnomAD rs779987487
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.77
- ESM-1b 0.63
- AlphaMissense 0.60
- CADD 24.10
- PolyPhen-2 0.40
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available