I39M (p.Ile39Met) variant of SLC22A1 (O15245)
I39M (p.Ile39Met) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I39M (p.Ile39Met) variant details
- p.Ile39Met
- ExAC rs749535980
- TOPMed rs749535980
- gnomAD rs749535980
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.54
- CADD 18.30
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available