H104R (p.His104Arg) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
H104R (p.His104Arg) in SLC9A3 (Sodium/hydrogen exchanger 3) 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 and structural context.
H104R (p.His104Arg) variant details
- p.His104Arg
- gnomAD rs1158978167
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.27
- SIFT 0.16
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available