R28L (p.Arg28Leu) variant of PKD2 (Polycystin-2)
R28L (p.Arg28Leu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 4-88007816-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -0.98
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available