L45F (p.Leu45Phe) variant of SLC25A20 (O43772)
L45F (p.Leu45Phe) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- cosmic curated COSV59803
- ExAC rs765457056
- gnomAD rs765457056
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- MetaLR 0.35
- MetaSVM -0.52
- CADD 16.90
- PolyPhen-2 0.44
- SIFT 0.36
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0018)
- Structural context available