L14V (p.Leu14Val) variant of TNXB (Tenascin-X)
L14V (p.Leu14Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs755462290
- ClinGen CA3735922
- ClinVar RCV002323318
- ExAC rs755462290
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available