H69R (p.His69Arg) variant of SLC12A3 (P55017)
H69R (p.His69Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
H69R (p.His69Arg) variant details
- p.His69Arg
- gnomAD 16-56865441-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- MetaLR 0.89
- MetaSVM 0.94
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available