L9A (p.Leu9Ala) variant of CYP27A1 (Q02318)
L9A (p.Leu9Ala) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L9A (p.Leu9Ala) variant details
- p.Leu9Ala
- rs1163340926
- gnomAD 2-218782204-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 32.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available