L11V (p.Leu11Val) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L11V (p.Leu11Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs759467737
- ClinGen CA10006352
- ClinVar RCV001940863
- ExAC rs759467737
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.90
- CADD 14.80
- PolyPhen-2 0.24
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00043)
- Structural context available