V7M (p.Val7Met) variant of PKD2 (Polycystin-2)
V7M (p.Val7Met) 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; Inborn genetic diseases. 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.
V7M (p.Val7Met) variant details
- p.Val7Met
- rs1366782791
- ClinGen CA357624807
- ClinVar RCV001367775
- ClinVar RCV003298597
- Uncertain significance
- Autosomal dominant polycystic kidney disease; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease; Inborn genetic dis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- 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)