N51D (p.Asn51Asp) variant of HSD3B2 (P26439)
N51D (p.Asn51Asp) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N51D (p.Asn51Asp) variant details
- p.Asn51Asp
- gnomAD rs1237083842
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.98
- CADD 12.50
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available