V10L (p.Val10Leu) variant of ETFB (P38117)
V10L (p.Val10Leu) in ETFB (P38117) 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.
V10L (p.Val10Leu) variant details
- p.Val10Leu
- 1000Genomes rs563834980
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.69
- CADD 24.80
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available