L56P (p.Leu56Pro) variant of PKD1 (Polycystin-1)
L56P (p.Leu56Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L56P (p.Leu56Pro) variant details
- p.Leu56Pro
- rs2092940195
- ClinGen CA394282329
- ClinVar RCV001254307
- ClinVar RCV001292022
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.99
- CADD 23.90
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant polycystic kidney di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00025)
- 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)