N31S (p.Asn31Ser) variant of TNXB (Tenascin-X)
N31S (p.Asn31Ser) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- ExAC rs759483542
- TOPMed rs759483542
- gnomAD rs759483542
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available