F22L (p.Phe22Leu) variant of GATA5 (Transcription factor GATA-5)
F22L (p.Phe22Leu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- ExAC rs782556189
- gnomAD rs782556189
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.61
- MetaLR 0.92
- MetaSVM 0.84
- CADD 19.00
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available