P24L (p.Pro24Leu) variant of PKD2 (Polycystin-2)
P24L (p.Pro24Leu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs1004860210
- UniProt VAR 058820
- TOPMed rs1004860210
- gnomAD rs1004860210
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available
- Cited in: Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. (PMID 11968093)