Q65R (p.Gln65Arg) variant of INS (Insulin)
Q65R (p.Gln65Arg) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q65R (p.Gln65Arg) variant details
- p.Gln65Arg
- rs773102009
- ClinGen CA379121046
- ClinVar RCV002663811
- ExAC rs773102009
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.32
- MetaLR 0.59
- MetaSVM -0.40
- CADD 14.30
- PolyPhen-2 0.34
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available