N131Y (p.Asn131Tyr) variant of HSD17B3 (P37058)
N131Y (p.Asn131Tyr) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
N131Y (p.Asn131Tyr) variant details
- p.Asn131Tyr
- ExAC rs772902740
- TOPMed rs772902740
- gnomAD rs772902740
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.05
- CADD 26.60
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available