Y67C (p.Tyr67Cys) variant of SLC12A3 (P55017)
Y67C (p.Tyr67Cys) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y67C (p.Tyr67Cys) variant details
- p.Tyr67Cys
- gnomAD 16-56865435-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- MetaLR 0.91
- MetaSVM 1.02
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available