P43L (p.Pro43Leu) variant of TNXB (Tenascin-X)
P43L (p.Pro43Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs749808879
- ClinGen CA3735901
- ClinVar RCV002383280
- ExAC rs749808879
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 25.00
- PolyPhen-2 0.96
- 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