S113L (p.Ser113Leu) variant of CHD8 (Q9HCK8)
S113L (p.Ser113Leu) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Complex neurodevelopmental disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
S113L (p.Ser113Leu) variant details
- p.Ser113Leu
- rs530700201
- ClinGen CA7091971
- ClinVar RCV000623698
- ClinVar RCV002263836
- Conflicting interpretations
- Complex neurodevelopmental disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Complex neurodevelopmental disorder; Inborn genetic diseases; no)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)