V61M (p.Val61Met) variant of SLC25A14 (O95258)
V61M (p.Val61Met) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V61M (p.Val61Met) variant details
- p.Val61Met
- gnomAD X-130346555-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.29
- MetaSVM -0.58
- CADD 22.30
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available