P127R (p.Pro127Arg) variant of TNXB (Tenascin-X)
P127R (p.Pro127Arg) 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 0.38 / 1. The record also includes population frequency data and structural context.
P127R (p.Pro127Arg) variant details
- p.Pro127Arg
- rs776915229
- ClinGen CA3735863
- ClinVar RCV002355227
- ExAC rs776915229
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- ESM-1b 0.45
- AlphaMissense 0.23
- MetaLR 0.24
- MetaSVM -0.69
- SIFT 0.00
- EVE 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available