A2S (p.Ala2Ser) variant of SF3B1 (Splicing factor 3B subunit 1)
A2S (p.Ala2Ser) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- 1000Genomes rs200907946
- TOPMed rs200907946
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available