K26N (p.Lys26Asn) variant of HSD3B2 (P26439)
K26N (p.Lys26Asn) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K26N (p.Lys26Asn) variant details
- p.Lys26Asn
- ExAC rs762899067
- gnomAD rs762899067
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.42
- MetaLR 0.45
- MetaSVM -0.37
- CADD 21.90
- PolyPhen-2 0.67
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available