P54Q (p.Pro54Gln) variant of TECTA (Alpha-tectorin)
P54Q (p.Pro54Gln) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P54Q (p.Pro54Gln) variant details
- p.Pro54Gln
- rs1403544978
- gnomAD 11-121105924-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available