S12F (p.Ser12Phe) variant of TECTA (Alpha-tectorin)
S12F (p.Ser12Phe) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- gnomAD 11-121102700-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available