V46A (p.Val46Ala) variant of POT1 (Q9NUX5)
V46A (p.Val46Ala) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- rs1795855729
- ClinGen CA369061698
- ClinVar RCV003747520
- TOPMed rs1795855729
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.12
- CADD 25.80
- PolyPhen-2 0.65
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tumor predisposition sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)