A102V (p.Ala102Val) variant of SLC25A14 (O95258)
A102V (p.Ala102Val) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A102V (p.Ala102Val) variant details
- p.Ala102Val
- gnomAD X-130346679-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.67
- MetaSVM 0.48
- CADD 25.30
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Literature evidence available