P35L (p.Pro35Leu) variant of GATA5 (Transcription factor GATA-5)
P35L (p.Pro35Leu) 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 0.72 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs730880111
- ClinGen CA346357
- ClinVar RCV000157240
- ClinVar RCV001850182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.83
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available