G29R (p.Gly29Arg) variant of NTHL1 (Endonuclease III-like protein 1)
G29R (p.Gly29Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- rs1161055704
- ClinGen CA394298330
- ClinVar RCV001298665
- TOPMed rs1161055704
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)