V84I (p.Val84Ile) variant of PKD1 (Polycystin-1)
V84I (p.Val84Ile) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V84I (p.Val84Ile) variant details
- p.Val84Ile
- rs914018183
- ClinGen CA276784276
- cosmic curated COSV51919
- ClinVar RCV003426523
- Conflicting interpretations
- not provided; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.078
- REVEL 0.02
- MetaLR 0.08
- MetaSVM -1.04
- CADD 4.06
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (not provided; Polycystic kidney disease, adult type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00026)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)