P39A (p.Pro39Ala) variant of TNXB (Tenascin-X)
P39A (p.Pro39Ala) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- ExAC rs747637294
- TOPMed rs747637294
- gnomAD rs747637294
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00094)
- Structural context available