Y64C (p.Tyr64Cys) variant of HSD17B3 (P37058)
Y64C (p.Tyr64Cys) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y64C (p.Tyr64Cys) variant details
- p.Tyr64Cys
- rs2130799996
- ClinGen CA374126366
- cosmic curated COSV64556
- ClinVar RCV003557457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.65
- MetaLR 0.76
- MetaSVM 0.80
- CADD 24.20
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available