I85T (p.Ile85Thr) variant of ABCC4 (O15439)
I85T (p.Ile85Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
I85T (p.Ile85Thr) variant details
- p.Ile85Thr
- gnomAD rs1169391019
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 23.10
- PolyPhen-2 0.34
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)