K2N (p.Lys2Asn) variant of ERCC2 (P18074)
K2N (p.Lys2Asn) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K2N (p.Lys2Asn) variant details
- p.Lys2Asn
- rs200443634
- ClinGen CA9513959
- ClinVar RCV003053010
- ClinVar RCV003170998
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.42
- CADD 26.50
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)