Q53H (p.Gln53His) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
Q53H (p.Gln53His) 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 0.46 / 1. The record also includes population frequency data and structural context.
Q53H (p.Gln53His) variant details
- p.Gln53His
- rs868752117
- Ensembl rs868752117
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.40
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available