A36S (p.Ala36Ser) variant of SLC12A3 (P55017)
A36S (p.Ala36Ser) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- rs1398388549
- ClinGen CA395976401
- ClinVar RCV003051203
- TOPMed rs1398388549
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.07
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available