p.Leu10dup variant of CYP21A2 (Steroid 21-hydroxylase)
p.Leu10dup in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu10dup variant details
- rs61338903
- gnomAD 6-32038437-C-CCTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 14.10
- Most common in the South Asian population (allele frequency 7.5e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)