P81L (p.Pro81Leu) variant of TNXB (Tenascin-X)
P81L (p.Pro81Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- ExAC rs757484516
- TOPMed rs757484516
- gnomAD rs757484516
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.25
- ESM-1b 0.70
- AlphaMissense 0.16
- CADD 23.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available