A26T (p.Ala26Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A26T (p.Ala26Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- gnomAD 5-119456332-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.39
- MetaSVM -0.28
- CADD 24.00
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available