S30A (p.Ser30Ala) variant of ETV6 (Transcription factor ETV6)
S30A (p.Ser30Ala) 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 0.34 / 1. The record also includes structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- rs1866052380
- ClinGen CA384041654
- ClinVar RCV003416725
- ClinVar RCV005062885
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.03
- PolyPhen-2 0.06
- SIFT 0.04
- EVE 0.46
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available