P22Q (p.Pro22Gln) variant of SLC12A2 (P55011)
P22Q (p.Pro22Gln) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P22Q (p.Pro22Gln) variant details
- p.Pro22Gln
- gnomAD 5-128084019-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.19
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available