T133R (p.Thr133Arg) variant of ABCC4 (O15439)
T133R (p.Thr133Arg) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
T133R (p.Thr133Arg) variant details
- p.Thr133Arg
- gnomAD rs1436317435
- Missense
- Variant Prioritization Score for Impact Estimate 0.069
- CADD 2.44
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)