I8T (p.Ile8Thr) variant of SLC25A20 (O43772)
I8T (p.Ile8Thr) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I8T (p.Ile8Thr) variant details
- p.Ile8Thr
- gnomAD rs1175488561
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.55
- MetaLR 0.41
- MetaSVM -0.38
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available