A52S (p.Ala52Ser) variant of ETV6 (Transcription factor ETV6)
A52S (p.Ala52Ser) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- gnomAD 12-11752570-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.11
- CADD 22.00
- PolyPhen-2 0.12
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available