R49C (p.Arg49Cys) variant of ETV6 (Transcription factor ETV6)
R49C (p.Arg49Cys) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Thrombocytopenia 5; not provided. 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.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- rs768891310
- ClinGen CA6454127
- NCI-TCGA Cosmic COSV1011
- ClinVar RCV002508731
- Uncertain significance
- Inborn genetic diseases; Thrombocytopenia 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.15
- AlphaMissense 0.16
- MetaLR 0.12
- MetaSVM -1.01
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Thrombocytopenia 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)