S79N (p.Ser79Asn) variant of IL1RAPL1 (Q9NZN1)
S79N (p.Ser79Asn) in IL1RAPL1 (Q9NZN1) 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, published literature, and structural context.
S79N (p.Ser79Asn) variant details
- p.Ser79Asn
- gnomAD X-29283091-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.20
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available