I4V (p.Ile4Val) variant of SF3B1 (Splicing factor 3B subunit 1)
I4V (p.Ile4Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- Ensembl rs2085501052
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available