V48M (p.Val48Met) variant of TNXB (Tenascin-X)
V48M (p.Val48Met) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- Ensembl rs769465899
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.30
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available