P87S (p.Pro87Ser) variant of SF3B1 (Splicing factor 3B subunit 1)
P87S (p.Pro87Ser) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- cosmic curated COSV59230
- 1000Genomes rs537380381
- ExAC rs537380381
- TOPMed rs537380381
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.14
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available