Y66H (p.Tyr66His) variant of TECTA (Alpha-tectorin)
Y66H (p.Tyr66His) 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 0.72 / 1. The record also includes population frequency data and structural context.
Y66H (p.Tyr66His) variant details
- p.Tyr66His
- TOPMed rs1565515727
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.76
- MetaLR 0.63
- MetaSVM 0.48
- CADD 31.00
- PolyPhen-2 0.69
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available