P30L (p.Pro30Leu) variant of NTHL1 (Endonuclease III-like protein 1)
P30L (p.Pro30Leu) 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 Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs759555861
- ClinGen CA276766637
- ClinVar RCV001368551
- ClinVar RCV002456572
- Uncertain significance
- Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 15.80
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Familial adenomatous polyposis 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)