E23K (p.Glu23Lys) variant of FERMT1 (Fermitin family homolog 1)
E23K (p.Glu23Lys) in FERMT1 (Fermitin family homolog 1) 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 0.12 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs1056137
- NCI-TCGA Cosmic COSV5409
- Ensembl rs1056137
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.07
- CADD 4.63
- PolyPhen-2 0.00
- SIFT 0.81
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available