H88Q (p.His88Gln) variant of ETFB (P38117)
H88Q (p.His88Gln) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H88Q (p.His88Gln) variant details
- p.His88Gln
- gnomAD 19-51353243-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.68
- CADD 19.50
- PolyPhen-2 0.98
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available