R25L (p.Arg25Leu) variant of SPTBN2 (O15020)
R25L (p.Arg25Leu) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- gnomAD rs1942383868
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.33
- CADD 25.50
- Most common in the African/African-American population (allele frequency 2.4e-05)