G20R (p.Gly20Arg) variant of NTHL1 (Endonuclease III-like protein 1)
G20R (p.Gly20Arg) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs529997128
- ClinGen CA394298460
- ClinVar RCV000809021
- ClinVar RCV001027384
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0767
- CADD 3.32
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.005)
- 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)