V46I (p.Val46Ile) variant of ABCC6 (O95255)
V46I (p.Val46Ile) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- gnomAD rs1425697662
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available