S130N (p.Ser130Asn) variant of CHD8 (Q9HCK8)
S130N (p.Ser130Asn) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
S130N (p.Ser130Asn) variant details
- p.Ser130Asn
- Ensembl rs571580819
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)