A86G (p.Ala86Gly) variant of SF3B1 (Splicing factor 3B subunit 1)
A86G (p.Ala86Gly) 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.
A86G (p.Ala86Gly) variant details
- p.Ala86Gly
- ExAC rs770523362
- gnomAD rs770523362
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.13
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available