V53M (p.Val53Met) variant of SLC25A14 (O95258)
V53M (p.Val53Met) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- 1000Genomes rs377260983
- ESP rs377260983
- ExAC rs377260983
- TOPMed rs377260983
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.33
- MetaSVM -0.51
- CADD 22.40
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available