P87L (p.Pro87Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
P87L (p.Pro87Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- gnomAD rs1024741639
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available