S3N (p.Ser3Asn) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S3N (p.Ser3Asn) 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.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- rs964493746
- gnomAD 5-119452818-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -0.96
- CADD 12.80
- SIFT 0.19
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available