A86T (p.Ala86Thr) variant of SF3B1 (Splicing factor 3B subunit 1)
A86T (p.Ala86Thr) 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 0.72 / 1. The record also includes population frequency data and structural context.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- NCI-TCGA Cosmic COSV5921
- cosmic curated COSV59210
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.67
- CADD 25.90
- PolyPhen-2 0.76
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available