R55L (p.Arg55Leu) variant of INS (Insulin)
R55L (p.Arg55Leu) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- gnomAD 11-2160808-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.76
- MetaLR 0.82
- MetaSVM 0.86
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available