L49I (p.Leu49Ile) variant of HSD3B2 (P26439)
L49I (p.Leu49Ile) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L49I (p.Leu49Ile) variant details
- p.Leu49Ile
- ExAC rs780947714
- gnomAD rs780947714
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.27
- MetaLR 0.31
- MetaSVM -0.57
- CADD 17.10
- PolyPhen-2 0.67
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available