S109R (p.Ser109Arg) variant of SLC25A20 (O43772)
S109R (p.Ser109Arg) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S109R (p.Ser109Arg) variant details
- p.Ser109Arg
- gnomAD 3-48879448-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.66
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available