V46L (p.Val46Leu) variant of ETFB (P38117)
V46L (p.Val46Leu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- TOPMed rs1986014276
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.38
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available