F31L (p.Phe31Leu) variant of POT1 (Q9NUX5)
F31L (p.Phe31Leu) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- rs1584791969
- ClinGen CA369066066
- ClinVar RCV001372734
- Ensembl rs1584791969
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.35
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)