A26V (p.Ala26Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A26V (p.Ala26Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- Ensembl rs1754652049
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.53
- CADD 11.20
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available