I112V (p.Ile112Val) variant of HSD17B3 (P37058)
I112V (p.Ile112Val) 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 0.52 / 1. The record also includes population frequency data and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- rs2130730164
- ClinGen CA374125592
- ClinVar RCV002008795
- Ensembl rs2130730164
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.52
- MetaLR 0.62
- MetaSVM 0.17
- CADD 22.10
- PolyPhen-2 0.61
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available