S79C (p.Ser79Cys) variant of CHD8 (Q9HCK8)
S79C (p.Ser79Cys) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and published literature.
S79C (p.Ser79Cys) variant details
- p.Ser79Cys
- rs2502016361
- ClinGen CA388890100
- ClinVar RCV002879296
- ClinVar RCV003660984
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)