R49S (p.Arg49Ser) variant of ETV6 (Transcription factor ETV6)
R49S (p.Arg49Ser) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
R49S (p.Arg49Ser) variant details
- p.Arg49Ser
- rs768891310
- ClinGen CA384041840
- ClinVar RCV003563347
- ClinVar RCV005333627
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- AlphaMissense 0.16
- MetaLR 0.12
- MetaSVM -1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.33
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)