P18P (p.Pro18Pro) variant of PKD2 (Polycystin-2)
P18P (p.Pro18Pro) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P18P (p.Pro18Pro) variant details
- p.Pro18Pro
- gnomAD 4-88007787-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.38
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available