L42Q (p.Leu42Gln) variant of SLC22A5 (O76082)
L42Q (p.Leu42Gln) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L42Q (p.Leu42Gln) variant details
- p.Leu42Gln
- gnomAD rs1751833252
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.74
- CADD 25.40
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available