R14P (p.Arg14Pro) variant of ICOS (Inducible T-cell costimulator)
R14P (p.Arg14Pro) in ICOS (Inducible T-cell costimulator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- ExAC rs776057192
- TOPMed rs776057192
- gnomAD rs776057192
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.02
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available