P81R (p.Pro81Arg) variant of TNXB (Tenascin-X)
P81R (p.Pro81Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
P81R (p.Pro81Arg) variant details
- p.Pro81Arg
- ExAC rs757484516
- TOPMed rs757484516
- gnomAD rs757484516
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 22.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available