H88H (p.His88His) variant of ETFB (P38117)
H88H (p.His88His) in ETFB (P38117) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H88H (p.His88His) variant details
- p.His88His
- rs562266125
- gnomAD 19-51353243-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available