K20R (p.Lys20Arg) variant of IL1RAPL1 (Q9NZN1)
K20R (p.Lys20Arg) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K20R (p.Lys20Arg) variant details
- p.Lys20Arg
- rs781634327
- ClinGen CA10375358
- ClinVar RCV003993051
- ExAC rs781634327
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available