N31D (p.Asn31Asp) variant of TNXB (Tenascin-X)
N31D (p.Asn31Asp) 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 0.42 / 1. The record also includes population frequency data and structural context.
N31D (p.Asn31Asp) variant details
- p.Asn31Asp
- ESP rs371203468
- ExAC rs371203468
- TOPMed rs371203468
- gnomAD rs371203468
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.00
- PolyPhen-2 0.98
- 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 9.7e-05)
- Structural context available