Q51R (p.Gln51Arg) variant of CHD8 (Q9HCK8)
Q51R (p.Gln51Arg) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- TOPMed rs1030485615
- gnomAD rs1030485615
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)