V18C (p.Val18Cys) variant of TECTA (Alpha-tectorin)
V18C (p.Val18Cys) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V18C (p.Val18Cys) variant details
- p.Val18Cys
- rs1365821101
- gnomAD 11-121102714-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 32.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available