P83L (p.Pro83Leu) variant of GATA5 (Transcription factor GATA-5)
P83L (p.Pro83Leu) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P83L (p.Pro83Leu) variant details
- p.Pro83Leu
- rs994848200
- ClinGen CA317288601
- ClinVar RCV001897373
- ClinVar RCV005330972
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.37
- MetaLR 0.88
- MetaSVM 0.60
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available