P56R (p.Pro56Arg) variant of DAP3 (P51398)
P56R (p.Pro56Arg) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- gnomAD 1-155717127-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.56
- ESM-1b 0.57
- AlphaMissense 0.87
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available