T125A (p.Thr125Ala) variant of SLC25A20 (O43772)
T125A (p.Thr125Ala) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T125A (p.Thr125Ala) variant details
- p.Thr125Ala
- gnomAD 3-48879402-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.57
- MetaLR 0.30
- MetaSVM -0.71
- CADD 22.90
- PolyPhen-2 0.21
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available