P35S (p.Pro35Ser) variant of GATA5 (Transcription factor GATA-5)
P35S (p.Pro35Ser) 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 0.57 / 1. The record also includes population frequency data and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- gnomAD rs1555897068
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.57
- MetaLR 0.96
- MetaSVM 1.11
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available