F123S (p.Phe123Ser) variant of SLC25A20 (O43772)
F123S (p.Phe123Ser) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F123S (p.Phe123Ser) variant details
- p.Phe123Ser
- gnomAD 3-48879407-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.64
- MetaLR 0.29
- MetaSVM -0.72
- CADD 23.90
- PolyPhen-2 0.38
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available