P99S (p.Pro99Ser) variant of GATA5 (Transcription factor GATA-5)
P99S (p.Pro99Ser) 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 0.42 / 1. The record also includes population frequency data and structural context.
P99S (p.Pro99Ser) variant details
- p.Pro99Ser
- gnomAD rs1989825258
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.34
- MetaLR 0.87
- MetaSVM 0.45
- CADD 12.10
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available