L49F (p.Leu49Phe) variant of HSD3B2 (P26439)
L49F (p.Leu49Phe) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- ExAC rs780947714
- gnomAD rs780947714
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.92
- CADD 13.60
- PolyPhen-2 0.28
- SIFT 0.31
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available