P43S (p.Pro43Ser) variant of SLC25A20 (O43772)
P43S (p.Pro43Ser) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- TOPMed rs1406980035
- gnomAD rs1406980035
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -1.01
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available