G35W (p.Gly35Trp) variant of DSP (Desmoplakin)
G35W (p.Gly35Trp) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G35W (p.Gly35Trp) variant details
- p.Gly35Trp
- gnomAD 6-7542018-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.38
- MetaLR 0.39
- MetaSVM -0.23
- CADD 22.00
- PolyPhen-2 0.19
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available