I117M (p.Ile117Met) variant of ABCC4 (O15439)
I117M (p.Ile117Met) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
I117M (p.Ile117Met) variant details
- p.Ile117Met
- ExAC rs779877173
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 21.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)