T124I (p.Thr124Ile) variant of SLC25A20 (O43772)
T124I (p.Thr124Ile) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T124I (p.Thr124Ile) variant details
- p.Thr124Ile
- gnomAD 3-48879404-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.81
- MetaLR 0.66
- MetaSVM 0.39
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available