L28M (p.Leu28Met) variant of HSD3B2 (P26439)
L28M (p.Leu28Met) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- gnomAD rs1222171282
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.42
- MetaLR 0.71
- MetaSVM 0.11
- CADD 22.40
- PolyPhen-2 0.73
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available