A9V (p.Ala9Val) variant of ETFB (P38117)
A9V (p.Ala9Val) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- ExAC rs764471064
- gnomAD rs764471064
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.48
- CADD 24.20
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available