I80T (p.Ile80Thr) variant of SLC25A20 (O43772)
I80T (p.Ile80Thr) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I80T (p.Ile80Thr) variant details
- p.Ile80Thr
- TOPMed rs1425564816
- gnomAD rs1425564816
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.38
- MetaLR 0.32
- MetaSVM -0.61
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available