S12R (p.Ser12Arg) variant of NTHL1 (Endonuclease III-like protein 1)
S12R (p.Ser12Arg) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- rs1216311147
- ClinGen CA394298555
- ClinVar RCV002657865
- ClinGen CA394298554
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)