R25M (p.Arg25Met) variant of NTHL1 (Endonuclease III-like protein 1)
R25M (p.Arg25Met) 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 0.30 / 1. The record also includes population frequency data and structural context.
R25M (p.Arg25Met) variant details
- p.Arg25Met
- rs2302172
- ClinGen CA394298372
- ClinVar RCV001224653
- 1000Genomes rs2302172
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 14.70
- PolyPhen-2 0.10
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (in dbSNP:rs2302172)
- UniProt: Likely benign (in dbSNP:rs2302172)
- Population evidence available
- Structural context available