L27R (p.Leu27Arg) variant of TECTA (Alpha-tectorin)
L27R (p.Leu27Arg) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L27R (p.Leu27Arg) variant details
- p.Leu27Arg
- gnomAD 11-121105846-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.15
- CADD 24.50
- PolyPhen-2 0.16
- SIFT 0.51
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available