G82C (p.Gly82Cys) variant of ETFB (P38117)
G82C (p.Gly82Cys) 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 and structural context.
G82C (p.Gly82Cys) variant details
- p.Gly82Cys
- gnomAD rs1237704229
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.97
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available