I76T (p.Ile76Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
I76T (p.Ile76Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I76T (p.Ile76Thr) variant details
- p.Ile76Thr
- TOPMed rs1334613513
- gnomAD rs1334613513
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.95
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available