A74V (p.Ala74Val) variant of GATA5 (Transcription factor GATA-5)
A74V (p.Ala74Val) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- gnomAD rs1555897025
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.46
- MetaLR 0.89
- MetaSVM 0.84
- CADD 23.60
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available