K31N (p.Lys31Asn) variant of IFNAR1 (Interferon alpha/beta receptor 1)
K31N (p.Lys31Asn) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; 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.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- rs774975020
- ClinGen CA10006386
- ClinVar RCV002649343
- ClinVar RCV004927836
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.22
- MetaLR 0.48
- MetaSVM -0.31
- CADD 12.70
- PolyPhen-2 0.87
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available