L3852P (p.Leu3852Pro) variant of PKD1 (Polycystin-1)
L3852P (p.Leu3852Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; PKD1-related disorder; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L3852P (p.Leu3852Pro) variant details
- p.Leu3852Pro
- rs2151695909
- ClinGen CA394332063
- ClinVar RCV001658933
- ClinVar RCV002477876
- Likely pathogenic
- not provided; PKD1-related disorder; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; PKD1-related disorder; Polycystic kidney disease,)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of… (PMID 11058904)
- Cited in: A complete mutation screen of the ADPKD genes by DHPLC. (PMID 11967008)