P54S (p.Pro54Ser) variant of TECTA (Alpha-tectorin)
P54S (p.Pro54Ser) in TECTA (Alpha-tectorin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- TOPMed rs374289159
- gnomAD rs374289159
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.58
- AlphaMissense 0.27
- MetaLR 0.48
- MetaSVM -0.12
- CADD 23.50
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available