N34K (p.Asn34Lys) variant of TECTA (Alpha-tectorin)
N34K (p.Asn34Lys) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- rs2135050168
- gnomAD 11-121105867-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 28.70
- Population evidence available
- Structural context available
- Literature evidence available