A19T (p.Ala19Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A19T (p.Ala19Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 5-119452630-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available