P83A (p.Pro83Ala) variant of GATA5 (Transcription factor GATA-5)
P83A (p.Pro83Ala) 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 0.37 / 1. The record also includes population frequency data and structural context.
P83A (p.Pro83Ala) variant details
- p.Pro83Ala
- rs1410534749
- ClinGen CA409557205
- ClinVar RCV003733778
- TOPMed rs1410534749
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.40
- MetaLR 0.75
- MetaSVM 0.16
- CADD 12.20
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available