D75E (p.Asp75Glu) variant of KCNQ3 (O43525)
D75E (p.Asp75Glu) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Benign neonatal seizures; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- rs138254004
- ClinGen CA315582
- ClinVar RCV000187962
- ClinVar RCV000647892
- Likely benign
- Inborn genetic diseases; Benign neonatal seizures; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.29
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Likely benign (Inborn genetic diseases; Benign neonatal seizures; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- 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)