P78L (p.Pro78Leu) variant of SLC25A20 (O43772)
P78L (p.Pro78Leu) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- ExAC rs774897635
- TOPMed rs774897635
- gnomAD rs774897635
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.91
- MetaLR 0.66
- MetaSVM 0.46
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available