C430S (p.Cys430Ser) variant of SLC12A3 (P55017)
C430S (p.Cys430Ser) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Renal tubulopathies. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C430S (p.Cys430Ser) variant details
- p.Cys430Ser
- rs2144711663
- ClinGen CA395986121
- ClinVar RCV002750741
- ClinVar RCV006634858
- Likely pathogenic
- not provided; Renal tubulopathies
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.89
- MetaLR 0.58
- MetaSVM 0.39
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Renal tubulopathies)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available