R5C (p.Arg5Cys) variant of ETFB (P38117)
R5C (p.Arg5Cys) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- TOPMed rs1422832903
- gnomAD rs1422832903
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.64
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available