G6S (p.Gly6Ser) variant of DSP (Desmoplakin)
G6S (p.Gly6Ser) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- gnomAD 6-7541931-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available