V7L (p.Val7Leu) variant of PKD2 (Polycystin-2)
V7L (p.Val7Leu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- gnomAD 4-88007752-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available