L39V (p.Leu39Val) variant of SLC25A14 (O95258)
L39V (p.Leu39Val) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- ExAC rs752483493
- gnomAD rs752483493
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.29
- MetaSVM -0.61
- CADD 18.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available