P55L (p.Pro55Leu) variant of TNXB (Tenascin-X)
P55L (p.Pro55Leu) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- 1000Genomes rs2127294359
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 25.00
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available