G82S (p.Gly82Ser) variant of ETFB (P38117)
G82S (p.Gly82Ser) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G82S (p.Gly82Ser) variant details
- p.Gly82Ser
- gnomAD 19-51353263-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available