R55Q (p.Arg55Gln) variant of SPTBN2 (O15020)
R55Q (p.Arg55Gln) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- cosmic curated COSV59458
- gnomAD rs1217789386
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)