P88S (p.Pro88Ser) variant of GATA5 (Transcription factor GATA-5)
P88S (p.Pro88Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- rs2146490508
- ClinGen CA409557114
- ClinVar RCV001998027
- Ensembl rs2146490508
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.28
- MetaLR 0.83
- MetaSVM 0.12
- CADD 13.30
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available