R69K (p.Arg69Lys) variant of INSR (Insulin receptor)
R69K (p.Arg69Lys) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R69K (p.Arg69Lys) variant details
- p.Arg69Lys
- Ensembl rs368318921
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -0.84
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available