Q50H (p.Gln50His) variant of ICOS (Inducible T-cell costimulator)
Q50H (p.Gln50His) in ICOS (Inducible T-cell costimulator) 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 0.28 / 1. The record also includes population frequency data and structural context.
Q50H (p.Gln50His) variant details
- p.Gln50His
- 1000Genomes rs55972840
- ESP rs55972840
- ExAC rs55972840
- TOPMed rs55972840
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -0.96
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available