V16M (p.Val16Met) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V16M (p.Val16Met) 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; not specified. 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.
V16M (p.Val16Met) variant details
- p.Val16Met
- rs866787077
- ClinGen CA320129914
- ClinVar RCV001989289
- ClinVar RCV005585064
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.10
- MetaLR 0.26
- MetaSVM -0.89
- CADD 16.20
- PolyPhen-2 0.06
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available