I116N (p.Ile116Asn) variant of HSD17B3 (P37058)
I116N (p.Ile116Asn) in HSD17B3 (P37058) 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.
I116N (p.Ile116Asn) variant details
- p.Ile116Asn
- ExAC rs777366638
- gnomAD rs777366638
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.77
- MetaLR 0.83
- MetaSVM 0.86
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available