A38V (p.Ala38Val) variant of NTHL1 (Endonuclease III-like protein 1)
A38V (p.Ala38Val) 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 not specified; Inherited polyposis and early onset colorectal cancer - germline. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs202082304
- ClinGen CA027490
- ClinVar RCV000961022
- ClinVar RCV001011260
- Conflicting interpretations
- not specified; Inherited polyposis and early onset colorectal cancer - germline
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 33.00
- PolyPhen-2 0.29
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inherited polyposis and early onset colorectal ca)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.061)
- 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)