P5S (p.Pro5Ser) variant of SLC25A20 (O43772)
P5S (p.Pro5Ser) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- TOPMed rs2083929089
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.13
- AlphaMissense 0.06
- MetaLR 0.21
- MetaSVM -0.95
- CADD 14.70
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available