P36L (p.Pro36Leu) variant of PKD1 (Polycystin-1)
P36L (p.Pro36Leu) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- 1000Genomes rs560049593
- TOPMed rs560049593
- gnomAD rs560049593
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.20
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Benign (in dbSNP:rs560049593)
- UniProt: Benign (in dbSNP:rs560049593)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available