R38P (p.Arg38Pro) variant of TNXB (Tenascin-X)
R38P (p.Arg38Pro) 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 0.41 / 1. The record also includes population frequency data and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- 1000Genomes rs149502087
- ESP rs149502087
- ExAC rs149502087
- TOPMed rs149502087
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.60
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available