I61M (p.Ile61Met) variant of SLC12A3 (P55017)
I61M (p.Ile61Met) in SLC12A3 (P55017) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I61M (p.Ile61Met) variant details
- p.Ile61Met
- TOPMed rs933308354
- gnomAD rs933308354
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0682
- CADD 0.02
- PolyPhen-2 0.53
- SIFT 0.46
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available