R6P (p.Arg6Pro) variant of PKD2 (Polycystin-2)
R6P (p.Arg6Pro) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- gnomAD 4-88007750-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available