A5P (p.Ala5Pro) variant of ABCC6 (O95255)
A5P (p.Ala5Pro) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- TOPMed rs2049135962
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.08
- CADD 13.60
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available