E55K (p.Glu55Lys) variant of FLNA (Filamin-A)
E55K (p.Glu55Lys) in FLNA (Filamin-A) 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 0.78 / 1. The record also includes population frequency data and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10077
- NCI-TCGA Cosmic COSV6103
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.88
- CADD 25.30
- PolyPhen-2 0.41
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available