T38A (p.Thr38Ala) variant of TECTA (Alpha-tectorin)
T38A (p.Thr38Ala) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- gnomAD rs1375830657
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- MetaLR 0.26
- MetaSVM -0.50
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available