L113P (p.Leu113Pro) variant of SLC25A20 (O43772)
L113P (p.Leu113Pro) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L113P (p.Leu113Pro) variant details
- p.Leu113Pro
- gnomAD 3-48879437-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.65
- MetaLR 0.60
- MetaSVM 0.16
- CADD 25.70
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available