Y6C (p.Tyr6Cys) variant of SLC37A4 (O43826)
Y6C (p.Tyr6Cys) in SLC37A4 (O43826) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Y6C (p.Tyr6Cys) variant details
- p.Tyr6Cys
- TOPMed rs945345385
- gnomAD rs945345385
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available