V6L (p.Val6Leu) variant of ETFB (P38117)
V6L (p.Val6Leu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- TOPMed rs1306468501
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.44
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available