R46K (p.Arg46Lys) variant of DAP3 (P51398)
R46K (p.Arg46Lys) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- TOPMed rs936896915
- gnomAD rs936896915
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.60
- PolyPhen-2 0.74
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available