I42N (p.Ile42Asn) variant of SLC2A4 (P14672)
I42N (p.Ile42Asn) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I42N (p.Ile42Asn) variant details
- p.Ile42Asn
- ExAC rs533993099
- TOPMed rs533993099
- gnomAD rs533993099
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.57
- CADD 26.90
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available