A37V (p.Ala37Val) variant of NTHL1 (Endonuclease III-like protein 1)
A37V (p.Ala37Val) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- rs1482983792
- ClinGen CA394298237
- ClinVar RCV001312444
- ClinVar RCV002384386
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; 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)