L28P (p.Leu28Pro) variant of HSD3B2 (P26439)
L28P (p.Leu28Pro) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 1-119415502-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.57
- MetaLR 0.73
- MetaSVM 0.29
- CADD 22.80
- PolyPhen-2 0.33
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available