A60V (p.Ala60Val) variant of GATA5 (Transcription factor GATA-5)
A60V (p.Ala60Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- TOPMed rs1410475805
- gnomAD rs1410475805
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.30
- MetaLR 0.82
- MetaSVM 0.17
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available