S74A (p.Ser74Ala) variant of TECTA (Alpha-tectorin)
S74A (p.Ser74Ala) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S74A (p.Ser74Ala) variant details
- p.Ser74Ala
- gnomAD 11-121109232-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.64
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available