P26L (p.Pro26Leu) variant of GATA5 (Transcription factor GATA-5)
P26L (p.Pro26Leu) 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 GATA5-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs1989835264
- ClinGen CA409557924
- ClinVar RCV003412227
- ClinVar RCV003549086
- Uncertain significance
- GATA5-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.50
- MetaLR 0.92
- MetaSVM 1.03
- CADD 26.20
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (GATA5-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available