E88K (p.Glu88Lys) variant of CHD8 (Q9HCK8)
E88K (p.Glu88Lys) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; 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.
E88K (p.Glu88Lys) variant details
- p.Glu88Lys
- rs78640816
- ClinGen CA7091976
- ClinVar RCV000399850
- ClinVar RCV000872901
- Benign/Likely benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.23
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)