L13V (p.Leu13Val) variant of PKD1 (Polycystin-1)
L13V (p.Leu13Val) 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; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- rs982042024
- ClinGen CA276756592
- ClinVar RCV002779746
- ClinVar RCV005011200
- Uncertain significance
- Inborn genetic diseases; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.02
- CADD 12.80
- PolyPhen-2 0.23
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance (in PKD1)
- UniProt: Uncertain significance (in PKD1)
- Most common in the REMAINING population (allele frequency 0.00049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)