P15I (p.Pro15Ile) variant of SLC12A1 (Q13621)
P15I (p.Pro15Ile) in SLC12A1 (Q13621) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P15I (p.Pro15Ile) variant details
- p.Pro15Ile
- gnomAD 15-48207761-GCCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available