G23V (p.Gly23Val) variant of DSP (Desmoplakin)
G23V (p.Gly23Val) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD 6-7541983-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.49
- MetaLR 0.41
- MetaSVM -0.09
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available