G6V (p.Gly6Val) variant of DSP (Desmoplakin)
G6V (p.Gly6Val) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 6-7541932-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.44
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available