V6A (p.Val6Ala) variant of ETFB (P38117)
V6A (p.Val6Ala) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- TOPMed rs1227484897
- gnomAD rs1227484897
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available