P66L (p.Pro66Leu) variant of HSD3B2 (P26439)
P66L (p.Pro66Leu) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- ExAC rs778763649
- TOPMed rs778763649
- gnomAD rs778763649
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- MetaLR 0.26
- MetaSVM -0.82
- CADD 12.70
- PolyPhen-2 0.07
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available