K121Q (p.Lys121Gln) variant of SPTBN2 (O15020)
K121Q (p.Lys121Gln) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
K121Q (p.Lys121Gln) variant details
- p.Lys121Gln
- 1000Genomes rs200462640
- ExAC rs200462640
- gnomAD rs200462640
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.79
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:PUR population (allele frequency 0.0051)