R22P (p.Arg22Pro) variant of NTHL1 (Endonuclease III-like protein 1)
R22P (p.Arg22Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R22P (p.Arg22Pro) variant details
- p.Arg22Pro
- ExAC rs779612126
- TOPMed rs779612126
- gnomAD rs779612126
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 15.00
- PolyPhen-2 0.24
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available