L45S (p.Leu45Ser) variant of SLC25A20 (O43772)
L45S (p.Leu45Ser) in SLC25A20 (O43772) is a missense change. 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.
L45S (p.Leu45Ser) variant details
- p.Leu45Ser
- gnomAD rs1178475298
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.99
- CADD 14.10
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available