S22T (p.Ser22Thr) variant of ETV6 (Transcription factor ETV6)
S22T (p.Ser22Thr) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S22T (p.Ser22Thr) variant details
- p.Ser22Thr
- gnomAD 12-11752481-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available