P24Q (p.Pro24Gln) variant of PKD2 (Polycystin-2)
P24Q (p.Pro24Gln) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P24Q (p.Pro24Gln) variant details
- p.Pro24Gln
- gnomAD 4-88007804-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.02
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the South Asian population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available