A113S (p.Ala113Ser) variant of SF3B1 (Splicing factor 3B subunit 1)
A113S (p.Ala113Ser) 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.
A113S (p.Ala113Ser) variant details
- p.Ala113Ser
- ESP rs369364118
- ExAC rs369364118
- TOPMed rs369364118
- gnomAD rs369364118
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available