L37M (p.Leu37Met) variant of SLC22A5 (O76082)
L37M (p.Leu37Met) in SLC22A5 (O76082) 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 0.22 / 1. The record also includes population frequency data and structural context.
L37M (p.Leu37Met) variant details
- p.Leu37Met
- gnomAD rs796052037
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.22
- AlphaMissense 0.20
- MetaLR 0.48
- MetaSVM -0.74
- CADD 5.80
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available