L43Q (p.Leu43Gln) variant of GATA5 (Transcription factor GATA-5)
L43Q (p.Leu43Gln) 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 0.69 / 1. The record also includes structural context.
L43Q (p.Leu43Gln) variant details
- p.Leu43Gln
- rs2146490774
- ClinGen CA409557752
- ClinVar RCV002031654
- Ensembl rs2146490774
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.15
- MetaLR 0.97
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available