Q35H (p.Gln35His) variant of KCNJ3 (P48549)
Q35H (p.Gln35His) in KCNJ3 (P48549) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- TOPMed rs1170408270
- gnomAD rs1170408270
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available