P50S (p.Pro50Ser) variant of SLC25A20 (O43772)
P50S (p.Pro50Ser) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- cosmic curated COSV10739
- TOPMed rs1323532383
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.19
- MetaLR 0.32
- MetaSVM -0.56
- CADD 20.90
- PolyPhen-2 0.26
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available