Q60K (p.Gln60Lys) variant of ICOS (Inducible T-cell costimulator)
Q60K (p.Gln60Lys) in ICOS (Inducible T-cell costimulator) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Q60K (p.Gln60Lys) variant details
- p.Gln60Lys
- cosmic curated COSV57031
- ExAC rs748772595
- gnomAD rs748772595
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 4.04
- PolyPhen-2 0.06
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available