M8L (p.Met8Leu) variant of NTHL1 (Endonuclease III-like protein 1)
M8L (p.Met8Leu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M8L (p.Met8Leu) variant details
- p.Met8Leu
- rs1596228289
- ClinGen CA394298609
- ClinVar RCV003063929
- 1000Genomes rs1596228289
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)