P5P (p.Pro5Pro) variant of SLC12A3 (P55017)
P5P (p.Pro5Pro) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- rs1432436647
- gnomAD 16-56865250-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0863
- CADD 0.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available