V43D (p.Val43Asp) variant of IL1RN (P18510)
V43D (p.Val43Asp) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V43D (p.Val43Asp) variant details
- p.Val43Asp
- ExAC rs755071562
- TOPMed rs755071562
- gnomAD rs755071562
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.28
- MetaLR 0.03
- MetaSVM -1.09
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available