D14Y (p.Asp14Tyr) variant of PKD2 (Polycystin-2)
D14Y (p.Asp14Tyr) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D14Y (p.Asp14Tyr) variant details
- p.Asp14Tyr
- TOPMed rs1166035431
- gnomAD rs1166035431
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.07
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available