I33T (p.Ile33Thr) variant of ABCC4 (O15439)
I33T (p.Ile33Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- gnomAD rs1457422742
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)