Q174H (p.Gln174His) variant of PICALM (Q13492)
Q174H (p.Gln174His) in PICALM (Q13492) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q174H (p.Gln174His) variant details
- p.Gln174His
- 1000Genomes rs592297
- ESP rs592297
- ExAC rs592297
- TOPMed rs592297
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.56
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available