P36L (p.Pro36Leu) variant of GATA5 (Transcription factor GATA-5)
P36L (p.Pro36Leu) 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 0.60 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs2516447479
- ClinGen CA409557835
- ClinVar RCV003713019
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.53
- MetaLR 0.88
- MetaSVM 0.77
- CADD 23.20
- PolyPhen-2 0.28
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available