P3R (p.Pro3Arg) variant of SLC12A2 (P55011)
P3R (p.Pro3Arg) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- gnomAD 5-128083962-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.23
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available