P9R (p.Pro9Arg) variant of DSP (Desmoplakin)
P9R (p.Pro9Arg) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- gnomAD 6-7541941-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available