I18T (p.Ile18Thr) variant of HSD3B2 (P26439)
I18T (p.Ile18Thr) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- gnomAD 1-119415472-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.74
- MetaLR 0.80
- MetaSVM 0.74
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available