S6L (p.Ser6Leu) variant of SPTBN2 (O15020)
S6L (p.Ser6Leu) 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 0.50 / 1. The record also includes population frequency data.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- NCI-TCGA Cosmic COSV5946
- cosmic curated COSV59460
- TOPMed rs1942386577
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.32
- CADD 24.20
- PolyPhen-2 0.39
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-06)