M1I (p.Met1Ile) variant of GATA5 (Transcription factor GATA-5)
M1I (p.Met1Ile) 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 0.96 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2146491023
- ClinGen CA409558165
- ClinVar RCV001912119
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available