I106V (p.Ile106Val) variant of ABCC6 (O95255)
I106V (p.Ile106Val) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I106V (p.Ile106Val) variant details
- p.Ile106Val
- TOPMed rs1567549262
- gnomAD rs1567549262
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- CADD 14.10
- PolyPhen-2 0.14
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available