V16A (p.Val16Ala) variant of TNXB (Tenascin-X)
V16A (p.Val16Ala) 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 0.33 / 1. The record also includes population frequency data and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- rs754301945
- ClinGen CA3735919
- ClinVar RCV003377557
- ExAC rs754301945
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.53
- MetaSVM -0.23
- SIFT 0.01
- EVE 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available