A3T (p.Ala3Thr) variant of ITGA6 (Integrin alpha-6)
A3T (p.Ala3Thr) in ITGA6 (Integrin alpha-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD rs1454318766
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available