A13T (p.Ala13Thr) variant of SF3B1 (Splicing factor 3B subunit 1)
A13T (p.Ala13Thr) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- Ensembl rs2106015596
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available