I110M (p.Ile110Met) variant of PKD1 (Polycystin-1)
I110M (p.Ile110Met) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I110M (p.Ile110Met) variant details
- p.Ile110Met
- TOPMed rs2092683766
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -0.97
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available