P42P (p.Pro42Pro) variant of SLC12A1 (Q13621)
P42P (p.Pro42Pro) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P42P (p.Pro42Pro) variant details
- p.Pro42Pro
- rs1380299890
- gnomAD 15-48207845-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.75
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available