R8K (p.Arg8Lys) variant of DAP3 (P51398)
R8K (p.Arg8Lys) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- TOPMed rs1656470494
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.50
- PolyPhen-2 0.06
- SIFT 0.80
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available