Y37C (p.Tyr37Cys) variant of SLC12A3 (P55017)
Y37C (p.Tyr37Cys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y37C (p.Tyr37Cys) variant details
- p.Tyr37Cys
- gnomAD rs760668145
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available