T38I (p.Thr38Ile) variant of TECTA (Alpha-tectorin)
T38I (p.Thr38Ile) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- rs750770599
- ClinGen CA6326423
- ClinVar RCV003227374
- ExAC rs750770599
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.32
- MetaLR 0.24
- MetaSVM -0.76
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available