p.Arg4 Pro8del variant of SLC12A2 (P55011)
p.Arg4 Pro8del in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg4 Pro8del variant details
- rs1759904941
- gnomAD 5-128083959-AGCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available