L24L (p.Leu24Leu) variant of CHD7 (Q9P2D1)
L24L (p.Leu24Leu) 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.
L24L (p.Leu24Leu) variant details
- p.Leu24Leu
- rs267601960
- gnomAD 8-60741504-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0856
- CADD 0.69
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.237
- Literature evidence available