V37V (p.Val37Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V37V (p.Val37Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V37V (p.Val37Val) variant details
- p.Val37Val
- rs771141287
- gnomAD 5-119456367-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.47
- MetaLR 0.61
- MetaSVM 0.30
- CADD 27.90
- SIFT 0.27
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available