P41L (p.Pro41Leu) variant of TNXB (Tenascin-X)
P41L (p.Pro41Leu) 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 0.44 / 1. The record also includes population frequency data and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- cosmic curated COSV64478
- ExAC rs769084817
- TOPMed rs769084817
- gnomAD rs769084817
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available