P38S (p.Pro38Ser) variant of SLC30A8 (Q8IWU4)
P38S (p.Pro38Ser) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- TOPMed rs984636211
- gnomAD rs984636211
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.05
- CADD 9.68
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available