P13S (p.Pro13Ser) variant of POT1 (Q9NUX5)
P13S (p.Pro13Ser) in POT1 (Q9NUX5) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- rs1584792028
- ClinGen CA369066235
- ClinVar RCV001021182
- ClinVar RCV004773227
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.28
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- 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)