V61I (p.Val61Ile) variant of IFNGR1 (Interferon gamma receptor 1)
V61I (p.Val61Ile) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Immunodeficiency 27A; Disseminated atypical mycobacterial infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V61I (p.Val61Ile) variant details
- p.Val61Ile
- rs17175322
- ClinGen CA4019032
- cosmic curated COSV10088
- ClinVar RCV000638149
- Benign/Likely benign
- Immunodeficiency 27A; Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.31
- CADD 20.30
- PolyPhen-2 0.74
- SIFT 0.05
- ClinVar: Benign/Likely benign (Immunodeficiency 27A; Disseminated atypical mycobacterial infect)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.039)
- Structural context available
- Cited in: Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID 20015550)
- Cited in: Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated… (PMID 26343451)