L96F (p.Leu96Phe) variant of TNXB (Tenascin-X)
L96F (p.Leu96Phe) in TNXB (Tenascin-X) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L96F (p.Leu96Phe) variant details
- p.Leu96Phe
- NCI-TCGA Cosmic COSV6447
- cosmic curated COSV64474
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available