N54D (p.Asn54Asp) variant of POT1 (Q9NUX5)
N54D (p.Asn54Asp) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N54D (p.Asn54Asp) variant details
- p.Asn54Asp
- rs1398488689
- ClinGen CA369061619
- ClinVar RCV001993548
- ClinVar RCV002388955
- Conflicting interpretations
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.37
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5.1e-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)