L29V (p.Leu29Val) variant of PKD2 (Polycystin-2)
L29V (p.Leu29Val) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant polycystic kidney disease. 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.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- rs1578111148
- ClinGen CA357625084
- ClinVar RCV001244464
- Ensembl rs1578111148
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.02
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)