L50V (p.Leu50Val) variant of IL1RN (P18510)
L50V (p.Leu50Val) in IL1RN (P18510) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD 2-113129607-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.15
- MetaLR 0.03
- MetaSVM -1.05
- CADD 17.50
- PolyPhen-2 0.16
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available