I111T (p.Ile111Thr) variant of ABCC4 (O15439)
I111T (p.Ile111Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
I111T (p.Ile111Thr) variant details
- p.Ile111Thr
- gnomAD rs1306522244
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 23.60
- PolyPhen-2 0.46
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)