K101R (p.Lys101Arg) variant of ERCC2 (P18074)
K101R (p.Lys101Arg) in ERCC2 (P18074) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K101R (p.Lys101Arg) variant details
- p.Lys101Arg
- rs201123342
- ClinGen CA406378459
- ClinVar RCV002435975
- 1000Genomes rs201123342
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.60
- PolyPhen-2 0.00
- SIFT 0.38
- MutPred 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)