V50L (p.Val50Leu) variant of POT1 (Q9NUX5)
V50L (p.Val50Leu) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- rs1688233518
- ClinGen CA369061664
- ClinVar RCV001902017
- gnomAD rs1688233518
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.23
- 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 Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)