Q5K (p.Gln5Lys) variant of TNXB (Tenascin-X)
Q5K (p.Gln5Lys) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- ExAC rs746664079
- gnomAD rs746664079
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available