E65K (p.Glu65Lys) variant of TNXB (Tenascin-X)
E65K (p.Glu65Lys) 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 0.49 / 1. The record also includes population frequency data and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available