P37S (p.Pro37Ser) variant of TNXB (Tenascin-X)
P37S (p.Pro37Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs2483773092
- ClinGen CA363493164
- ClinVar RCV003887683
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available