S71L (p.Ser71Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
S71L (p.Ser71Leu) in SF3B1 (Splicing factor 3B subunit 1) 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 0.46 / 1. The record also includes population frequency data and structural context.
S71L (p.Ser71Leu) variant details
- p.Ser71Leu
- rs1261996759
- NCI-TCGA Cosmic COSV5921
- cosmic curated COSV59211
- gnomAD rs1261996759
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.25
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available