T38N (p.Thr38Asn) variant of TECTA (Alpha-tectorin)
T38N (p.Thr38Asn) in TECTA (Alpha-tectorin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- ExAC rs750770599
- gnomAD rs750770599
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.26
- MetaLR 0.19
- MetaSVM -0.82
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available