R244C (p.Arg244Cys) variant of FOXG1 (Forkhead box protein G1)
R244C (p.Arg244Cys) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R244C (p.Arg244Cys) variant details
- p.Arg244Cys
- rs786205009
- ClinGen CA199444
- ClinVar RCV000170082
- UniProt VAR 064396
- Pathogenic/Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic/Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic (in RTTCV)
- UniProt: Pathogenic (in RTTCV)
- Structural context available
- Cited in: A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. (PMID 21280142)
- Cited in: FOXG1 Syndrome. (PMID 38843374)