G23V (p.Gly23Val) variant of NTHL1 (Endonuclease III-like protein 1)
G23V (p.Gly23Val) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- rs749963973
- ClinGen CA027909
- ClinVar RCV001049217
- ClinVar RCV002374897
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 10.90
- PolyPhen-2 0.20
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00023)
- 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)