I98V (p.Ile98Val) variant of PKD1 (Polycystin-1)
I98V (p.Ile98Val) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I98V (p.Ile98Val) variant details
- p.Ile98Val
- ExAC rs764218106
- gnomAD rs764218106
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.01
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available