V63G (p.Val63Gly) variant of IFNGR1 (Interferon gamma receptor 1)
V63G (p.Val63Gly) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V63G (p.Val63Gly) variant details
- p.Val63Gly
- UniProt VAR 080062
- Pathogenic
- in IMD27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.63
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. (PMID 11139207)
- Cited in: Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID 20015550)