D29N (p.Asp29Asn) variant of IL1RAPL1 (Q9NZN1)
D29N (p.Asp29Asn) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- rs763980117
- NCI-TCGA Cosmic COSV5631
- ExAC rs763980117
- gnomAD rs763980117
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.18
- CADD 26.70
- PolyPhen-2 0.86
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available