L40Q (p.Leu40Gln) variant of ERCC2 (P18074)
L40Q (p.Leu40Gln) 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 0.87 / 1. The record also includes published literature and structural context.
L40Q (p.Leu40Gln) variant details
- p.Leu40Gln
- rs1972524332
- ClinGen CA406379648
- ClinVar RCV004518340
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.87
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.94
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)