V52M (p.Val52Met) variant of TNXB (Tenascin-X)
V52M (p.Val52Met) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- ExAC rs757476937
- TOPMed rs757476937
- gnomAD rs757476937
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 13.00
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available