L25S (p.Leu25Ser) variant of SLC22A1 (O15245)
L25S (p.Leu25Ser) in SLC22A1 (O15245) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L25S (p.Leu25Ser) variant details
- p.Leu25Ser
- rs1440356481
- ClinGen CA366343589
- ClinVar RCV004118055
- gnomAD rs1440356481
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.64
- CADD 22.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available