S2F (p.Ser2Phe) variant of POT1 (Q9NUX5)
S2F (p.Ser2Phe) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- rs2485575150
- ClinGen CA369066365
- ClinVar RCV003746195
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.23
- CADD 27.40
- PolyPhen-2 0.77
- 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)