D10A (p.Asp10Ala) variant of SF3B1 (Splicing factor 3B subunit 1)
D10A (p.Asp10Ala) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D10A (p.Asp10Ala) variant details
- p.Asp10Ala
- Ensembl rs1574552692
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.26
- CADD 24.50
- PolyPhen-2 0.20
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available