P42S (p.Pro42Ser) variant of SLC18A2 (Q05940)
P42S (p.Pro42Ser) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- TOPMed rs1482068772
- gnomAD rs1482068772
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available