V2M (p.Val2Met) variant of PKD2 (Polycystin-2)
V2M (p.Val2Met) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- TOPMed rs1726221508
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.07
- CADD 15.70
- PolyPhen-2 0.03
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available