M170T (p.Met170Thr) variant of ABCC4 (O15439)
M170T (p.Met170Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
M170T (p.Met170Thr) variant details
- p.Met170Thr
- Ensembl rs1000417848
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the East Asian population (allele frequency 2.5e-05)