R50C (p.Arg50Cys) variant of DAP3 (P51398)
R50C (p.Arg50Cys) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- ExAC rs377474444
- TOPMed rs377474444
- gnomAD rs377474444
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available