S72L (p.Ser72Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
S72L (p.Ser72Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S72L (p.Ser72Leu) variant details
- p.Ser72Leu
- ExAC rs768864284
- gnomAD rs768864284
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.12
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available