R50Q (p.Arg50Gln) variant of IL1RAPL1 (Q9NZN1)
R50Q (p.Arg50Gln) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs199864130
- NCI-TCGA Cosmic COSV5625
- ESP rs199864130
- ExAC rs199864130
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.54
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Benign (not provided)
- UniProt: Benign
- Population evidence available
- Structural context available