R33G (p.Arg33Gly) variant of NTHL1 (Endonuclease III-like protein 1)
R33G (p.Arg33Gly) 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 0.29 / 1. The record also includes population frequency data and structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- rs2548331011
- ClinGen CA394298302
- ClinVar RCV002299271
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available