P21R (p.Pro21Arg) variant of PKD2 (Polycystin-2)
P21R (p.Pro21Arg) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- gnomAD 4-88007795-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available
- Literature evidence available