M42K (p.Met42Lys) variant of GATA5 (Transcription factor GATA-5)
M42K (p.Met42Lys) 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 0.59 / 1. The record also includes population frequency data and structural context.
M42K (p.Met42Lys) variant details
- p.Met42Lys
- rs1555897054
- ClinGen CA409557767
- ClinVar RCV002628659
- gnomAD rs1555897054
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.66
- MetaLR 0.95
- MetaSVM 0.90
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available