A24V (p.Ala24Val) variant of SF3B1 (Splicing factor 3B subunit 1)
A24V (p.Ala24Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD rs1448749134
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available