R17K (p.Arg17Lys) variant of HSD3B2 (P26439)
R17K (p.Arg17Lys) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R17K (p.Arg17Lys) variant details
- p.Arg17Lys
- cosmic curated COSV65592
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.62
- MetaLR 0.62
- MetaSVM 0.25
- CADD 21.20
- PolyPhen-2 0.18
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available