A19V (p.Ala19Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A19V (p.Ala19Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- cosmic curated COSV99819
- ESP rs148363262
- ExAC rs148363262
- TOPMed rs148363262
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.29
- SIFT 0.91
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available