L91H (p.Leu91His) variant of ERCC2 (P18074)
L91H (p.Leu91His) 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 0.50 / 1. The record also includes published literature and structural context.
L91H (p.Leu91His) variant details
- p.Leu91His
- rs1972509341
- ClinGen CA406378685
- ClinVar RCV004518405
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.87
- MetaLR 0.55
- MetaSVM 0.05
- PolyPhen-2 0.24
- SIFT 0.01
- EVE 0.36
- 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)