P42R (p.Pro42Arg) variant of CHD7 (Q9P2D1)
P42R (p.Pro42Arg) in CHD7 (Q9P2D1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- gnomAD 8-60741555-GCCAAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 26.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.0267
- Literature evidence available