I49V (p.Ile49Val) variant of POT1 (Q9NUX5)
I49V (p.Ile49Val) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
I49V (p.Ile49Val) variant details
- p.Ile49Val
- rs1345686360
- ClinGen CA369061676
- ClinVar RCV000805515
- ClinVar RCV003322827
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.04
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.03
- 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 2.4e-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)