P111L (p.Pro111Leu) variant of SLC25A20 (O43772)
P111L (p.Pro111Leu) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P111L (p.Pro111Leu) variant details
- p.Pro111Leu
- gnomAD 3-48879443-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.33
- MetaLR 0.19
- MetaSVM -0.85
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available