I100N (p.Ile100Asn) variant of CAV3 (Caveolin-3)
I100N (p.Ile100Asn) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rippling muscle disease 2; Hypertrophic cardiomyopathy 1; Elevated circulating c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
I100N (p.Ile100Asn) variant details
- p.Ile100Asn
- rs1708139265
- ClinGen CA351663470
- ClinVar RCV001249608
- Ensembl rs1708139265
- Likely pathogenic
- Rippling muscle disease 2; Hypertrophic cardiomyopathy 1; Elevated circulating c
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Rippling muscle disease 2; Hypertrophic cardiomyopathy 1; Elevat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)