L21L (p.Leu21Leu) variant of CHD7 (Q9P2D1)
L21L (p.Leu21Leu) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- gnomAD 8-60741495-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.086
- CADD 0.76
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.165
- Literature evidence available