Y104C (p.Tyr104Cys) variant of SLC25A14 (O95258)
Y104C (p.Tyr104Cys) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y104C (p.Tyr104Cys) variant details
- p.Tyr104Cys
- gnomAD X-130346685-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.78
- MetaSVM 0.78
- CADD 26.10
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available