S10N (p.Ser10Asn) variant of GATA5 (Transcription factor GATA-5)
S10N (p.Ser10Asn) 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 0.31 / 1. The record also includes population frequency data and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- TOPMed rs1555897094
- gnomAD rs1555897094
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.31
- MetaLR 0.71
- MetaSVM -0.18
- CADD 8.87
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available