A36G (p.Ala36Gly) variant of NTHL1 (Endonuclease III-like protein 1)
A36G (p.Ala36Gly) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A36G (p.Ala36Gly) variant details
- p.Ala36Gly
- rs772384035
- ClinGen CA027458
- ClinVar RCV001994282
- ClinVar RCV003170357
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- 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)