L23P (p.Leu23Pro) variant of GATA5 (Transcription factor GATA-5)
L23P (p.Leu23Pro) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- TOPMed rs1173762787
- gnomAD rs1173762787
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.85
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available