P7S (p.Pro7Ser) variant of SLC25A20 (O43772)
P7S (p.Pro7Ser) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC25A20-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- TOPMed rs1422074791
- gnomAD rs1422074791
- Uncertain significance
- SLC25A20-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.36
- MetaLR 0.28
- MetaSVM -0.70
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Uncertain significance (SLC25A20-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available