S30L (p.Ser30Leu) variant of SLC22A2 (O15244)
S30L (p.Ser30Leu) in SLC22A2 (O15244) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S30L (p.Ser30Leu) variant details
- p.Ser30Leu
- rs774203224
- ExAC rs774203224
- TOPMed rs774203224
- gnomAD rs774203224
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.53
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available