V21F (p.Val21Phe) variant of IL1RAPL1 (Q9NZN1)
V21F (p.Val21Phe) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
V21F (p.Val21Phe) variant details
- p.Val21Phe
- rs1936510432
- ClinGen CA412631926
- ClinVar RCV001093396
- Ensembl rs1936510432
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.23
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available