A146T (p.Ala146Thr) variant of HSD17B3 (P37058)
A146T (p.Ala146Thr) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. 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.
A146T (p.Ala146Thr) variant details
- p.Ala146Thr
- rs779332674
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- 1000Genomes rs779332674
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.27
- MetaLR 0.34
- MetaSVM -0.56
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available