G63S (p.Gly63Ser) variant of GATA5 (Transcription factor GATA-5)
G63S (p.Gly63Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- rs975107982
- ClinGen CA317288626
- ClinVar RCV002001056
- Ensembl rs975107982
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.35
- MetaLR 0.74
- MetaSVM 0.24
- CADD 11.20
- PolyPhen-2 0.11
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available