P122H (p.Pro122His) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
P122H (p.Pro122His) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P122H (p.Pro122His) variant details
- p.Pro122His
- rs1406350252
- gnomAD rs1406350252
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.31
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available