M2L (p.Met2Leu) variant of TNXB (Tenascin-X)
M2L (p.Met2Leu) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- ExAC rs770613234
- TOPMed rs770613234
- gnomAD rs770613234
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available