V48I (p.Val48Ile) variant of SLC2A2 (P11168)
V48I (p.Val48Ile) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- ExAC rs561765982
- gnomAD rs561765982
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.13
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available