N75S (p.Asn75Ser) variant of POT1 (Q9NUX5)
N75S (p.Asn75Ser) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- rs1044174795
- ClinGen CA166079848
- ClinVar RCV000537871
- ClinVar RCV001014921
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.05
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)