I122V (p.Ile122Val) variant of ABCC6 (O95255)
I122V (p.Ile122Val) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I122V (p.Ile122Val) variant details
- p.Ile122Val
- TOPMed rs2049009192
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.08
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 5.8e-06)
- Structural context available