R42T (p.Arg42Thr) variant of ETV6 (Transcription factor ETV6)
R42T (p.Arg42Thr) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R42T (p.Arg42Thr) variant details
- p.Arg42Thr
- gnomAD 12-11752541-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.27
- CADD 26.60
- PolyPhen-2 0.50
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available