G23D (p.Gly23Asp) variant of DSP (Desmoplakin)
G23D (p.Gly23Asp) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- gnomAD 6-7541983-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.37
- MetaLR 0.41
- MetaSVM -0.11
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available