L21R (p.Leu21Arg) variant of CHD7 (Q9P2D1)
L21R (p.Leu21Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD rs1475653682
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.49
- MetaLR 0.54
- MetaSVM 0.15
- CADD 26.60
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.165