L58F (p.Leu58Phe) variant of GATA5 (Transcription factor GATA-5)
L58F (p.Leu58Phe) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- TOPMed rs1555897036
- gnomAD rs1555897036
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.34
- MetaLR 0.90
- MetaSVM 0.38
- CADD 20.80
- PolyPhen-2 0.55
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available