A118T (p.Ala118Thr) variant of ABCC6 (O95255)
A118T (p.Ala118Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A118T (p.Ala118Thr) variant details
- p.Ala118Thr
- TOPMed rs1052064121
- gnomAD rs1052064121
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.33
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available