N68S (p.Asn68Ser) variant of TECTA (Alpha-tectorin)
N68S (p.Asn68Ser) 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 0.66 / 1. The record also includes population frequency data and structural context.
N68S (p.Asn68Ser) variant details
- p.Asn68Ser
- ExAC rs778855778
- TOPMed rs778855778
- gnomAD rs778855778
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.67
- MetaLR 0.70
- MetaSVM 0.53
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available