T55A (p.Thr55Ala) variant of SLC25A20 (O43772)
T55A (p.Thr55Ala) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- rs1002978497
- ClinGen CA73998473
- ClinVar RCV001806960
- TOPMed rs1002978497
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.33
- MetaLR 0.20
- MetaSVM -0.88
- CADD 21.30
- PolyPhen-2 0.10
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available