A16T (p.Ala16Thr) variant of TECTA (Alpha-tectorin)
A16T (p.Ala16Thr) in TECTA (Alpha-tectorin) 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 0.21 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- ESP rs149919658
- ExAC rs149919658
- TOPMed rs149919658
- gnomAD rs149919658
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.04
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available