I122M (p.Ile122Met) variant of ABCC6 (O95255)
I122M (p.Ile122Met) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I122M (p.Ile122Met) variant details
- p.Ile122Met
- gnomAD rs2049009113
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.17
- CADD 14.20
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available