P109L (p.Pro109Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
P109L (p.Pro109Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P109L (p.Pro109Leu) variant details
- p.Pro109Leu
- ESP rs142315543
- ExAC rs142315543
- TOPMed rs142315543
- gnomAD rs142315543
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available