P4L (p.Pro4Leu) variant of IL1RAPL1 (Q9NZN1)
P4L (p.Pro4Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs773334103
- ClinGen CA10375350
- ClinVar RCV002938571
- ExAC rs773334103
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.10
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available