I3S (p.Ile3Ser) variant of SLC25A14 (O95258)
I3S (p.Ile3Ser) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I3S (p.Ile3Ser) variant details
- p.Ile3Ser
- gnomAD X-130340286-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.50
- MetaSVM -0.46
- CADD 24.70
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available