G19V (p.Gly19Val) variant of POT1 (Q9NUX5)
G19V (p.Gly19Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- rs1334143931
- ClinGen CA369066167
- ClinVar RCV002347563
- ClinVar RCV003585259
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.02
- CADD 21.90
- PolyPhen-2 0.23
- SIFT 0.04
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)