P42S (p.Pro42Ser) variant of SLC30A8 (Q8IWU4)
P42S (p.Pro42Ser) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar, EBI, 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 0.17 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- ExAC rs780519971
- TOPMed rs780519971
- gnomAD rs780519971
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.06
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available