Q39R (p.Gln39Arg) variant of DAP3 (P51398)
Q39R (p.Gln39Arg) 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.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- rs146211768
- ClinGen CA1149172
- ClinVar RCV004370896
- ESP rs146211768
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available