P92H (p.Pro92His) variant of ETFB (P38117)
P92H (p.Pro92His) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P92H (p.Pro92His) variant details
- p.Pro92His
- ExAC rs750675545
- gnomAD rs750675545
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 0.50
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available