L6P (p.Leu6Pro) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L6P (p.Leu6Pro) 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 0.38 / 1. The record also includes population frequency data and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs1261792292
- ClinGen CA410104896
- ClinVar RCV002033813
- ClinVar RCV005854180
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.36
- MetaLR 0.46
- MetaSVM -0.64
- CADD 22.80
- PolyPhen-2 0.97
- SIFT 0.13
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available