P48R (p.Pro48Arg) variant of CAV3 (Caveolin-3)
P48R (p.Pro48Arg) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Elevated circulating creatine kinase activity; Distal myopathy, Tateyama type; R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- rs1060502317
- ClinGen CA16611375
- ClinVar RCV000465194
- ClinVar RCV002393131
- Uncertain significance
- Elevated circulating creatine kinase activity; Distal myopathy, Tateyama type; R
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Elevated circulating creatine kinase activity; Distal myopathy,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)