I49T (p.Ile49Thr) variant of TECTA (Alpha-tectorin)
I49T (p.Ile49Thr) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data and structural context.
I49T (p.Ile49Thr) variant details
- p.Ile49Thr
- TOPMed rs1458677810
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.81
- MetaLR 0.66
- MetaSVM 0.47
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available