L25P (p.Leu25Pro) variant of SF3B1 (Splicing factor 3B subunit 1)
L25P (p.Leu25Pro) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- cosmic curated COSV59222
- TOPMed rs958668455
- gnomAD rs958668455
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available