M153R (p.Met153Arg) variant of SF3B1 (Splicing factor 3B subunit 1)
M153R (p.Met153Arg) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M153R (p.Met153Arg) variant details
- p.Met153Arg
- gnomAD rs1214437688
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available