L114V (p.Leu114Val) variant of PKD1 (Polycystin-1)
L114V (p.Leu114Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L114V (p.Leu114Val) variant details
- p.Leu114Val
- rs980956715
- ClinGen CA276784215
- ClinVar RCV003990449
- TOPMed rs980956715
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.42
- MetaLR 0.56
- MetaSVM 0.07
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)