A71T (p.Ala71Thr) variant of ABCC6 (O95255)
A71T (p.Ala71Thr) 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 0.14 / 1. The record also includes population frequency data and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- rs1330645129
- gnomAD rs1330645129
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available