P21L (p.Pro21Leu) variant of PKD2 (Polycystin-2)
P21L (p.Pro21Leu) 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.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD 4-88007795-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.08
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available