D42Y (p.Asp42Tyr) variant of POT1 (Q9NUX5)
D42Y (p.Asp42Tyr) in POT1 (Q9NUX5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- rs1358511734
- NCI-TCGA Cosmic COSV1007
- gnomAD rs1358511734
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available