G2S (p.Gly2Ser) variant of SLC25A14 (O95258)
G2S (p.Gly2Ser) 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 and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- ESP rs377228654
- ExAC rs377228654
- TOPMed rs377228654
- gnomAD rs377228654
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM -0.24
- CADD 27.50
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available