L103V (p.Leu103Val) variant of TNXB (Tenascin-X)
L103V (p.Leu103Val) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L103V (p.Leu103Val) variant details
- p.Leu103Val
- Ensembl rs1003249117
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.36
- CADD 21.80
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available