A40V (p.Ala40Val) variant of NTHL1 (Endonuclease III-like protein 1)
A40V (p.Ala40Val) 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; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs375615004
- ClinGen CA7828361
- ClinVar RCV000809621
- ClinVar RCV001011586
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 5.87
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; not speci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)