I932T (p.Ile932Thr) variant of PKD1 (Polycystin-1)
I932T (p.Ile932Thr) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I932T (p.Ile932Thr) variant details
- p.Ile932Thr
- Ensembl rs2092590504
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.33
- CADD 25.60
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available