K121R (p.Lys121Arg) variant of SPTBN2 (O15020)
K121R (p.Lys121Arg) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
K121R (p.Lys121Arg) variant details
- p.Lys121Arg
- ExAC rs764048472
- gnomAD rs764048472
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.71
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00011)