K101N (p.Lys101Asn) variant of ERCC2 (P18074)
K101N (p.Lys101Asn) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K101N (p.Lys101Asn) variant details
- p.Lys101Asn
- rs1182986304
- ClinGen CA406378446
- ClinVar RCV002619801
- ClinVar RCV003161958
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.09
- AlphaMissense 0.40
- MetaLR 0.47
- MetaSVM -0.06
- CADD 21.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)