L30P (p.Leu30Pro) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L30P (p.Leu30Pro) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD 21-33335536-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.54
- MetaLR 0.61
- MetaSVM -0.22
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available