R73Q (p.Arg73Gln) variant of SPTBN2 (O15020)
R73Q (p.Arg73Gln) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- gnomAD rs1300028290
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.27
- CADD 26.20
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)