A151T (p.Ala151Thr) variant of ABCC6 (O95255)
A151T (p.Ala151Thr) in ABCC6 (O95255) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A151T (p.Ala151Thr) variant details
- p.Ala151Thr
- rs1025306917
- TOPMed rs1025306917
- gnomAD rs1025306917
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0357
- REVEL 0.02
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00049)
- Structural context available