V12A (p.Val12Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V12A (p.Val12Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD rs1338970262
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 19.50
- PolyPhen-2 0.69
- SIFT 0.48
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available