F31S (p.Phe31Ser) variant of TECTA (Alpha-tectorin)
F31S (p.Phe31Ser) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F31S (p.Phe31Ser) variant details
- p.Phe31Ser
- TOPMed rs1419140766
- gnomAD rs1419140766
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.59
- CADD 27.00
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available