S45P (p.Ser45Pro) variant of POT1 (Q9NUX5)
S45P (p.Ser45Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- rs774755861
- ClinGen CA4465493
- ClinVar RCV001231690
- ClinVar RCV003328662
- Uncertain significance
- Tumor predisposition syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)