C59F (p.Cys59Phe) variant of POT1 (Q9NUX5)
C59F (p.Cys59Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C59F (p.Cys59Phe) variant details
- p.Cys59Phe
- rs763187597
- ClinGen CA4465491
- ClinVar RCV001047997
- ExAC rs763187597
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.49
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)