L4W (p.Leu4Trp) variant of NTHL1 (Endonuclease III-like protein 1)
L4W (p.Leu4Trp) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L4W (p.Leu4Trp) variant details
- p.Leu4Trp
- rs1413587495
- ClinGen CA394298667
- ClinVar RCV002455198
- ClinVar RCV003099609
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 9.52
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)