L113R (p.Leu113Arg) variant of SLC25A20 (O43772)
L113R (p.Leu113Arg) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L113R (p.Leu113Arg) variant details
- p.Leu113Arg
- gnomAD 3-48879437-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.61
- MetaLR 0.51
- MetaSVM -0.18
- CADD 25.20
- PolyPhen-2 0.72
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available