P13R (p.Pro13Arg) variant of SLC12A2 (P55011)
P13R (p.Pro13Arg) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- gnomAD 5-128083988-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 18.20
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available