P3Q (p.Pro3Gln) variant of SLC12A2 (P55011)
P3Q (p.Pro3Gln) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- gnomAD 5-128083962-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.25
- CADD 19.10
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available