G44V (p.Gly44Val) variant of TNXB (Tenascin-X)
G44V (p.Gly44Val) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- gnomAD rs1290324165
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available