S50Y (p.Ser50Tyr) variant of DIP2B (Q9P265)
S50Y (p.Ser50Tyr) in DIP2B (Q9P265) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S50Y (p.Ser50Tyr) variant details
- p.Ser50Tyr
- rs750739469
- ExAC rs750739469
- TOPMed rs750739469
- gnomAD rs750739469
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -0.99
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available