V11D (p.Val11Asp) variant of SLC22A1 (O15245)
V11D (p.Val11Asp) 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 0.56 / 1. The record also includes population frequency data and structural context.
V11D (p.Val11Asp) variant details
- p.Val11Asp
- ExAC rs749926302
- TOPMed rs749926302
- gnomAD rs749926302
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.62
- CADD 23.60
- PolyPhen-2 0.54
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available