L9M (p.Leu9Met) variant of NTHL1 (Endonuclease III-like protein 1)
L9M (p.Leu9Met) 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 0.08 / 1. The record also includes population frequency data and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- rs1596228271
- ClinGen CA394298592
- ClinVar RCV001895464
- Ensembl rs1596228271
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0827
- CADD 4.12
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available