P109T (p.Pro109Thr) variant of SF3B1 (Splicing factor 3B subunit 1)
P109T (p.Pro109Thr) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P109T (p.Pro109Thr) variant details
- p.Pro109Thr
- gnomAD rs1393540919
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.19
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available