Q19L (p.Gln19Leu) variant of TECTA (Alpha-tectorin)
Q19L (p.Gln19Leu) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q19L (p.Gln19Leu) variant details
- p.Gln19Leu
- gnomAD 11-121102721-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.084
- REVEL 0.06
- CADD 7.96
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available