P94L (p.Pro94Leu) variant of TNXB (Tenascin-X)
P94L (p.Pro94Leu) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar 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 0.53 / 1. The record also includes population frequency data and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- cosmic curated COSV10653
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available