P82S (p.Pro82Ser) variant of GATA5 (Transcription factor GATA-5)
P82S (p.Pro82Ser) 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 specified; 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.
P82S (p.Pro82Ser) variant details
- p.Pro82Ser
- rs1396325756
- ClinGen CA409557224
- ClinVar RCV002995660
- ClinVar RCV004065300
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.40
- MetaLR 0.80
- MetaSVM 0.33
- CADD 23.20
- PolyPhen-2 0.43
- SIFT 0.24
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available