P8H (p.Pro8His) variant of SLC12A2 (P55011)
P8H (p.Pro8His) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- gnomAD rs1262237079
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.29
- CADD 23.50
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available