G23R (p.Gly23Arg) variant of NTHL1 (Endonuclease III-like protein 1)
G23R (p.Gly23Arg) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- Ensembl rs2084521094
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 3.60
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available