P53L (p.Pro53Leu) variant of GATA5 (Transcription factor GATA-5)
P53L (p.Pro53Leu) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- TOPMed rs1159484648
- gnomAD rs1159484648
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.38
- MetaLR 0.82
- MetaSVM 0.46
- CADD 19.90
- PolyPhen-2 0.43
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available