N15S (p.Asn15Ser) variant of POT1 (Q9NUX5)
N15S (p.Asn15Ser) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N15S (p.Asn15Ser) variant details
- p.Asn15Ser
- rs764821384
- ClinGen CA4465515
- ClinVar RCV001312269
- ClinVar RCV002327691
- Uncertain significance
- Hereditary cancer; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer; Hereditary cancer-predisposing syndrome; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.9e-05)
- 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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)