I85T (p.Ile85Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
I85T (p.Ile85Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I85T (p.Ile85Thr) variant details
- p.Ile85Thr
- ESP rs370260682
- TOPMed rs370260682
- Uncertain significance
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.24
- CADD 6.14
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Uncertain significance (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available