V22L (p.Val22Leu) variant of ETFB (P38117)
V22L (p.Val22Leu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- ExAC rs754545072
- TOPMed rs754545072
- gnomAD rs754545072
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.62
- CADD 23.50
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available