L49L (p.Leu49Leu) variant of HSD3B2 (P26439)
L49L (p.Leu49Leu) in HSD3B2 (P26439) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs752417564
- gnomAD 1-119419422-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0677
- CADD 1.41
- SIFT 0.39
- Most common in the Amish population (allele frequency 0.033)
- Structural context available
- Literature evidence available