S3C (p.Ser3Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S3C (p.Ser3Cys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- gnomAD 5-119456325-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.44
- MetaLR 0.63
- MetaSVM 0.30
- CADD 25.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available