P18S (p.Pro18Ser) variant of PKD2 (Polycystin-2)
P18S (p.Pro18Ser) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- gnomAD rs1227851635
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.07
- CADD 2.40
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available