T36A (p.Thr36Ala) variant of SF3B1 (Splicing factor 3B subunit 1)
T36A (p.Thr36Ala) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- TOPMed rs1051372734
- gnomAD rs1051372734
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- CADD 21.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available