P18W (p.Pro18Trp) variant of DAP3 (P51398)
P18W (p.Pro18Trp) in DAP3 (P51398) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P18W (p.Pro18Trp) variant details
- p.Pro18Trp
- gnomAD 1-155717010-ACC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available