P130S (p.Pro130Ser) variant of SLC25A20 (O43772)
P130S (p.Pro130Ser) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
P130S (p.Pro130Ser) variant details
- p.Pro130Ser
- TOPMed rs1191735542
- gnomAD rs1191735542
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- MetaLR 0.97
- MetaSVM 1.07
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available