L63V (p.Leu63Val) variant of HSD3B2 (P26439)
L63V (p.Leu63Val) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L63V (p.Leu63Val) variant details
- p.Leu63Val
- gnomAD rs1341258016
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.45
- MetaLR 0.74
- MetaSVM 0.20
- CADD 15.20
- PolyPhen-2 0.17
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available