G15S (p.Gly15Ser) variant of DSP (Desmoplakin)
G15S (p.Gly15Ser) 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 0.49 / 1. The record also includes population frequency data and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs2533800567
- ClinGen CA362675570
- ClinVar RCV002333738
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.35
- MetaLR 0.39
- MetaSVM -0.28
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available