E27D (p.Glu27Asp) variant of NTHL1 (Endonuclease III-like protein 1)
E27D (p.Glu27Asp) 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, published literature, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs1596227883
- ClinGen CA394298338
- ClinVar RCV000820565
- ClinVar RCV002397717
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- CADD 4.01
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- 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)