R273L (p.Arg273Leu) variant of POT1 (Q9NUX5)
R273L (p.Arg273Leu) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R273L (p.Arg273Leu) variant details
- p.Arg273Leu
- rs587777476
- ClinGen CA163231
- cosmic curated COSV10968
- ClinVar RCV000128424
- Pathogenic
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.84
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Tumor predisposition syndrome 3)
- EBI: Pathogenic (in TPDS3)
- UniProt: Pathogenic (in TPDS3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: POT1 loss-of-function variants predispose to familial melanoma. (PMID 24686849)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)