M8I (p.Met8Ile) variant of NTHL1 (Endonuclease III-like protein 1)
M8I (p.Met8Ile) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M8I (p.Met8Ile) variant details
- p.Met8Ile
- rs2548332297
- ClinGen CA394298596
- ClinVar RCV002340631
- ClinVar RCV003708645
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)