P24A (p.Pro24Ala) variant of PKD2 (Polycystin-2)
P24A (p.Pro24Ala) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- gnomAD 4-88007803-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.07
- CADD 5.60
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available