A17G (p.Ala17Gly) variant of ETFB (P38117)
A17G (p.Ala17Gly) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- gnomAD rs1434234790
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 0.82
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available