P36S (p.Pro36Ser) variant of PKD1 (Polycystin-1)
P36S (p.Pro36Ser) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- TOPMed rs2092941107
- gnomAD rs2092941107
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.05
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available