G86S (p.Gly86Ser) variant of ETFB (P38117)
G86S (p.Gly86Ser) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G86S (p.Gly86Ser) variant details
- p.Gly86Ser
- gnomAD 19-51353251-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available