H122R (p.His122Arg) variant of SF3B1 (Splicing factor 3B subunit 1)
H122R (p.His122Arg) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H122R (p.His122Arg) variant details
- p.His122Arg
- ExAC rs758679975
- gnomAD rs758679975
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.09
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available