A14T (p.Ala14Thr) variant of ITGA6 (Integrin alpha-6)
A14T (p.Ala14Thr) 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 0.68 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD rs1486826628
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 20.70
- PolyPhen-2 0.06
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available