A68P (p.Ala68Pro) variant of GATA5 (Transcription factor GATA-5)
A68P (p.Ala68Pro) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
A68P (p.Ala68Pro) variant details
- p.Ala68Pro
- rs2146490622
- ClinGen CA409557462
- ClinVar RCV001878301
- Ensembl rs2146490622
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.09
- MetaLR 0.86
- MetaSVM 0.57
- PolyPhen-2 0.07
- SIFT 0.03
- EVE 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available