E21K (p.Glu21Lys) variant of CAV3 (Caveolin-3)
E21K (p.Glu21Lys) in CAV3 (Caveolin-3) 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 0.51 / 1. The record also includes structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs867303882
- cosmic curated COSV10464
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV5956
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- ESM-1b 0.00
- AlphaMissense 0.63
- MetaLR 0.84
- MetaSVM 0.69
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available