V11G (p.Val11Gly) variant of SLC22A1 (O15245)
V11G (p.Val11Gly) in SLC22A1 (O15245) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V11G (p.Val11Gly) variant details
- p.Val11Gly
- ExAC rs749926302
- TOPMed rs749926302
- gnomAD rs749926302
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.46
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available