S39L (p.Ser39Leu) variant of SPTBN2 (O15020)
S39L (p.Ser39Leu) in SPTBN2 (O15020) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
S39L (p.Ser39Leu) variant details
- p.Ser39Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.33
- CADD 28.50
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)