I44T (p.Ile44Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
I44T (p.Ile44Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. 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.
I44T (p.Ile44Thr) variant details
- p.Ile44Thr
- TOPMed rs924312880
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.14
- CADD 5.12
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available