L12V (p.Leu12Val) variant of SLC25A14 (O95258)
L12V (p.Leu12Val) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD X-130340312-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.50
- MetaSVM -0.45
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available