S80R (p.Ser80Arg) variant of TECTA (Alpha-tectorin)
S80R (p.Ser80Arg) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S80R (p.Ser80Arg) variant details
- p.Ser80Arg
- gnomAD 11-121109252-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available