Y110C (p.Tyr110Cys) variant of SLC25A20 (O43772)
Y110C (p.Tyr110Cys) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y110C (p.Tyr110Cys) variant details
- p.Tyr110Cys
- TOPMed rs2083784197
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.86
- MetaLR 0.61
- MetaSVM 0.28
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available