S32R (p.Ser32Arg) variant of SLC34A3 (Q8N130)
S32R (p.Ser32Arg) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S32R (p.Ser32Arg) variant details
- p.Ser32Arg
- ExAC rs754208327
- gnomAD rs754208327
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- MetaLR 0.07
- MetaSVM -1.00
- CADD 0.41
- PolyPhen-2 0.27
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available