S4N (p.Ser4Asn) variant of HSD3B2 (P26439)
S4N (p.Ser4Asn) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- ExAC rs773416276
- TOPMed rs773416276
- gnomAD rs773416276
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.33
- MetaLR 0.49
- MetaSVM -0.13
- CADD 17.00
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available