R46G (p.Arg46Gly) variant of DAP3 (P51398)
R46G (p.Arg46Gly) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- gnomAD 1-155717096-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.30
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available