L63M (p.Leu63Met) variant of HSD3B2 (P26439)
L63M (p.Leu63Met) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L63M (p.Leu63Met) variant details
- p.Leu63Met
- gnomAD 1-119419462-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.48
- MetaLR 0.75
- MetaSVM 0.21
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available