L70V (p.Leu70Val) variant of SLC22A1 (O15245)
L70V (p.Leu70Val) in SLC22A1 (O15245) is a missense change. Clinical records from ClinVar 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 0.32 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- TOPMed rs1473907452
- gnomAD rs1473907452
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.33
- CADD 20.60
- PolyPhen-2 0.85
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available