E4K (p.Glu4Lys) variant of CAV3 (Caveolin-3)
E4K (p.Glu4Lys) 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 0.57 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- rs1353541488
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- gnomAD rs1353541488
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.51
- CADD 27.10
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available