L112I (p.Leu112Ile) variant of ABCC6 (O95255)
L112I (p.Leu112Ile) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L112I (p.Leu112Ile) variant details
- p.Leu112Ile
- Ensembl rs2049014938
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.19
- CADD 23.00
- PolyPhen-2 0.79
- SIFT 0.25
- Population evidence available
- Structural context available