A146V (p.Ala146Val) variant of HSD17B3 (P37058)
A146V (p.Ala146Val) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A146V (p.Ala146Val) variant details
- p.Ala146Val
- gnomAD rs1227310598
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.26
- MetaLR 0.43
- MetaSVM -0.57
- CADD 8.25
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available