T125S (p.Thr125Ser) variant of SLC25A20 (O43772)
T125S (p.Thr125Ser) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T125S (p.Thr125Ser) variant details
- p.Thr125Ser
- TOPMed rs777628898
- gnomAD rs777628898
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.57
- MetaLR 0.39
- MetaSVM -0.51
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available