L40L (p.Leu40Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L40L (p.Leu40Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs6468
- gnomAD 6-32038540-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 6.03
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)