Y8C (p.Tyr8Cys) variant of SLC30A8 (Q8IWU4)
Y8C (p.Tyr8Cys) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- ExAC rs758845299
- gnomAD rs758845299
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.13
- CADD 17.80
- PolyPhen-2 0.47
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available