L17V (p.Leu17Val) variant of TNXB (Tenascin-X)
L17V (p.Leu17Val) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- ExAC rs780534506
- gnomAD rs780534506
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.10
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available