N51K (p.Asn51Lys) variant of HSD3B2 (P26439)
N51K (p.Asn51Lys) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N51K (p.Asn51Lys) variant details
- p.Asn51Lys
- gnomAD 1-119419428-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -0.96
- CADD 1.91
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available