P13L (p.Pro13Leu) variant of SLC12A2 (P55011)
P13L (p.Pro13Leu) 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 and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- TOPMed rs1759927661
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.21
- CADD 3.35
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available