L82L (p.Leu82Leu) variant of CHD7 (Q9P2D1)
L82L (p.Leu82Leu) in CHD7 (Q9P2D1) 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.
L82L (p.Leu82Leu) variant details
- p.Leu82Leu
- rs1315959572
- gnomAD 8-60741676-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 9.30
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available