P110A (p.Pro110Ala) variant of SF3B1 (Splicing factor 3B subunit 1)
P110A (p.Pro110Ala) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P110A (p.Pro110Ala) variant details
- p.Pro110Ala
- gnomAD rs1401630281
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.11
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available