H69Y (p.His69Tyr) variant of SLC12A3 (P55017)
H69Y (p.His69Tyr) 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 0.68 / 1. The record also includes population frequency data and structural context.
H69Y (p.His69Tyr) variant details
- p.His69Tyr
- rs780502516
- ClinGen CA395977275
- ClinVar RCV002573131
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 16.40
- PolyPhen-2 0.09
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in GTLMNS)
- UniProt: Uncertain significance (in GTLMNS)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available