V25L (p.Val25Leu) variant of SLC25A20 (O43772)
V25L (p.Val25Leu) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- cosmic curated COSV59802
- ExAC rs777241185
- TOPMed rs777241185
- gnomAD rs777241185
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.47
- MetaLR 0.49
- MetaSVM -0.12
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available