N13H (p.Asn13His) variant of CHD8 (Q9HCK8)
N13H (p.Asn13His) in CHD8 (Q9HCK8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
N13H (p.Asn13His) variant details
- p.Asn13His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)