E27K (p.Glu27Lys) variant of FOXI1 (Forkhead box protein I1)
E27K (p.Glu27Lys) in FOXI1 (Forkhead box protein I1) 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 0.69 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs781004930
- NCI-TCGA Cosmic COSV6038
- cosmic curated COSV60389
- ExAC rs781004930
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.63
- CADD 26.30
- PolyPhen-2 0.77
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available