A121T (p.Ala121Thr) variant of HSD17B3 (P37058)
A121T (p.Ala121Thr) 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 0.21 / 1. The record also includes population frequency data and structural context.
A121T (p.Ala121Thr) variant details
- p.Ala121Thr
- rs1587729516
- ClinGen CA374125463
- ClinVar RCV003443339
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.24
- MetaLR 0.64
- MetaSVM -0.35
- CADD 0.50
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available