Y2N (p.Tyr2Asn) variant of GATA5 (Transcription factor GATA-5)
Y2N (p.Tyr2Asn) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y2N (p.Tyr2Asn) variant details
- p.Tyr2Asn
- Ensembl rs1601520923
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.92
- MetaLR 0.98
- MetaSVM 1.07
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available