R20P (p.Arg20Pro) variant of HSD3B2 (P26439)
R20P (p.Arg20Pro) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R20P (p.Arg20Pro) variant details
- p.Arg20Pro
- gnomAD 1-119415478-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.59
- MetaLR 0.57
- MetaSVM -0.01
- CADD 17.60
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available