R8M (p.Arg8Met) variant of DAP3 (P51398)
R8M (p.Arg8Met) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R8M (p.Arg8Met) variant details
- p.Arg8Met
- gnomAD 1-155709802-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- ESM-1b 0.05
- AlphaMissense 0.16
- CADD 23.10
- PolyPhen-2 0.54
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available