Q66R (p.Gln66Arg) variant of DAP3 (P51398)
Q66R (p.Gln66Arg) in DAP3 (P51398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q66R (p.Gln66Arg) variant details
- p.Gln66Arg
- TOPMed rs1256281261
- gnomAD rs1256281261
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available