V47A (p.Val47Ala) variant of POT1 (Q9NUX5)
V47A (p.Val47Ala) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- Ensembl rs896759546
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available