P103L (p.Pro103Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
P103L (p.Pro103Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P103L (p.Pro103Leu) variant details
- p.Pro103Leu
- Ensembl rs1574548280
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.39
- CADD 26.00
- PolyPhen-2 0.71
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available