P87S (p.Pro87Ser) variant of GATA5 (Transcription factor GATA-5)
P87S (p.Pro87Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- Ensembl rs1989827010
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.35
- MetaLR 0.81
- MetaSVM 0.18
- CADD 18.60
- PolyPhen-2 0.41
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available