R12K (p.Arg12Lys) variant of DAP3 (P51398)
R12K (p.Arg12Lys) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R12K (p.Arg12Lys) variant details
- p.Arg12Lys
- ExAC rs760898731
- TOPMed rs760898731
- gnomAD rs760898731
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available