L142V (p.Leu142Val) variant of TNXB (Tenascin-X)
L142V (p.Leu142Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
L142V (p.Leu142Val) variant details
- p.Leu142Val
- ExAC rs758908709
- gnomAD rs758908709
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available