H6R (p.His6Arg) variant of CAV3 (Caveolin-3)
H6R (p.His6Arg) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H6R (p.His6Arg) variant details
- p.His6Arg
- rs1233979640
- ClinGen CA351661183
- ClinVar RCV004091703
- TOPMed rs1233979640
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.63
- CADD 7.56
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available