H1684R (p.His1684Arg) variant of DSP (Desmoplakin)
H1684R (p.His1684Arg) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive familial heart block. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
H1684R (p.His1684Arg) variant details
- p.His1684Arg
- rs1135401735
- ClinGen CA362687737
- ClinVar RCV000492066
- Ensembl rs1135401735
- Likely pathogenic
- Progressive familial heart block
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.21
- MetaLR 0.16
- MetaSVM -0.85
- PolyPhen-2 0.96
- SIFT 0.08
- EVE 0.65
- ClinVar: Likely pathogenic (Progressive familial heart block)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available