P99A (p.Pro99Ala) variant of GATA5 (Transcription factor GATA-5)
P99A (p.Pro99Ala) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P99A (p.Pro99Ala) variant details
- p.Pro99Ala
- gnomAD rs1989825258
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.37
- MetaLR 0.87
- MetaSVM 0.45
- CADD 9.67
- PolyPhen-2 0.05
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available