S74C (p.Ser74Cys) variant of SLC25A14 (O95258)
S74C (p.Ser74Cys) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S74C (p.Ser74Cys) variant details
- p.Ser74Cys
- gnomAD X-130346594-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.51
- MetaSVM 0.03
- CADD 22.90
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available