A96V (p.Ala96Val) variant of GATA5 (Transcription factor GATA-5)
A96V (p.Ala96Val) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, 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 0.45 / 1. The record also includes population frequency data and structural context.
A96V (p.Ala96Val) variant details
- p.Ala96Val
- rs113823160
- ClinGen CA409556953
- ClinVar RCV003043090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.36
- MetaLR 0.84
- MetaSVM 0.33
- CADD 15.10
- PolyPhen-2 0.10
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available