F31C (p.Phe31Cys) variant of TECTA (Alpha-tectorin)
F31C (p.Phe31Cys) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F31C (p.Phe31Cys) variant details
- p.Phe31Cys
- TOPMed rs1419140766
- gnomAD rs1419140766
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.31
- MetaLR 0.25
- MetaSVM -0.44
- CADD 27.10
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available