K124R (p.Lys124Arg) variant of CHD8 (Q9HCK8)
K124R (p.Lys124Arg) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
K124R (p.Lys124Arg) variant details
- p.Lys124Arg
- rs190228362
- ClinGen CA7091964
- ClinVar RCV002349065
- ClinVar RCV002473368
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)