I102F (p.Ile102Phe) variant of HSD17B3 (P37058)
I102F (p.Ile102Phe) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I102F (p.Ile102Phe) variant details
- p.Ile102Phe
- rs116436956
- ClinGen CA5140456
- ClinVar RCV000898707
- ClinVar RCV003922924
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.47
- MetaLR 0.39
- MetaSVM -0.53
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available