C30Y (p.Cys30Tyr) variant of HSD17B3 (P37058)
C30Y (p.Cys30Tyr) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- gnomAD rs1827633003
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.16
- MetaLR 0.20
- MetaSVM -0.82
- CADD 0.08
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available