A17V (p.Ala17Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A17V (p.Ala17Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 5-119452770-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.25
- MetaLR 0.25
- MetaSVM -0.77
- CADD 19.20
- SIFT 0.06
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available