L27P (p.Leu27Pro) variant of SLC12A2 (P55011)
L27P (p.Leu27Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 5-128084034-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.17
- CADD 11.90
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the South Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available