P38S (p.Pro38Ser) variant of ETV6 (Transcription factor ETV6)
P38S (p.Pro38Ser) 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 and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- TOPMed rs1866053231
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.10
- CADD 21.80
- PolyPhen-2 0.20
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available