L14V (p.Leu14Val) variant of SLC25A20 (O43772)
L14V (p.Leu14Val) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- ExAC rs759378078
- TOPMed rs759378078
- gnomAD rs759378078
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.16
- MetaLR 0.31
- MetaSVM -0.68
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available