Q16K (p.Gln16Lys) variant of EDN1 (Endothelin-1)
Q16K (p.Gln16Lys) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- rs377019316
- ClinGen CA3638577
- ClinVar RCV002718450
- ESP rs377019316
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.44
- MetaLR 0.48
- MetaSVM 0.02
- CADD 22.60
- PolyPhen-2 0.21
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)