R27G (p.Arg27Gly) variant of DSP (Desmoplakin)
R27G (p.Arg27Gly) in DSP (Desmoplakin) 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 0.48 / 1. The record also includes population frequency data and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs762198350
- ClinGen CA362675705
- ClinVar RCV004518977
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- MetaLR 0.34
- MetaSVM -0.25
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available