P13H (p.Pro13His) variant of POT1 (Q9NUX5)
P13H (p.Pro13His) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P13H (p.Pro13His) variant details
- p.Pro13His
- rs2485562872
- ClinGen CA369066233
- ClinVar RCV002611116
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.41
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)