G16A (p.Gly16Ala) variant of NTHL1 (Endonuclease III-like protein 1)
G16A (p.Gly16Ala) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- rs747325774
- ClinGen CA027845
- ClinVar RCV000795884
- ClinVar RCV002370084
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 6.18
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)