N70K (p.Asn70Lys) variant of TECTA (Alpha-tectorin)
N70K (p.Asn70Lys) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
N70K (p.Asn70Lys) variant details
- p.Asn70Lys
- gnomAD 11-121109219-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available