P39L (p.Pro39Leu) variant of TNXB (Tenascin-X)
P39L (p.Pro39Leu) in TNXB (Tenascin-X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- Ensembl rs2127294445
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available