P27H (p.Pro27His) variant of IL1RN (P18510)
P27H (p.Pro27His) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- ExAC rs777003410
- gnomAD rs777003410
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.79
- CADD 22.60
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available