L49F (p.Leu49Phe) variant of SLC25A14 (O95258)
L49F (p.Leu49Phe) 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 structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- Ensembl rs2124745987
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.49
- ESM-1b 0.32
- AlphaMissense 0.19
- MetaLR 0.49
- MetaSVM -0.06
- SIFT 0.01
- Structural context available