S12A (p.Ser12Ala) variant of TECTA (Alpha-tectorin)
S12A (p.Ser12Ala) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S12A (p.Ser12Ala) variant details
- p.Ser12Ala
- TOPMed rs1172967669
- gnomAD rs1172967669
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.05
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available