R27L (p.Arg27Leu) variant of CAV3 (Caveolin-3)
R27L (p.Arg27Leu) in CAV3 (Caveolin-3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HYPCK, RMD2 and MPDT. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- gnomAD rs116840778
- Pathogenic
- in HYPCK, RMD2 and MPDT
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Pathogenic (in HYPCK, RMD2 and MPDT)
- UniProt: Pathogenic (in HYPCK, RMD2 and MPDT)
- Structural context available