L124V (p.Leu124Val) variant of ERCC2 (P18074)
L124V (p.Leu124Val) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L124V (p.Leu124Val) variant details
- p.Leu124Val
- rs1406240724
- ClinGen CA406376279
- ClinVar RCV003165071
- gnomAD rs1406240724
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.41
- CADD 15.60
- PolyPhen-2 0.14
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 7.6e-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)