V55F (p.Val55Phe) variant of TECTA (Alpha-tectorin)
V55F (p.Val55Phe) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V55F (p.Val55Phe) variant details
- p.Val55Phe
- rs1299330274
- gnomAD 11-121105927-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 13.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available