P21L (p.Pro21Leu) variant of INS (Insulin)
P21L (p.Pro21Leu) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- ESP rs369743665
- ExAC rs369743665
- TOPMed rs369743665
- gnomAD rs369743665
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.33
- MetaLR 0.84
- MetaSVM 0.28
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available