M85T (p.Met85Thr) variant of SLC25A20 (O43772)
M85T (p.Met85Thr) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
M85T (p.Met85Thr) variant details
- p.Met85Thr
- TOPMed rs1374102445
- gnomAD rs1374102445
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.76
- MetaLR 0.37
- MetaSVM -0.27
- CADD 24.40
- PolyPhen-2 0.67
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available