M32V (p.Met32Val) variant of GATA5 (Transcription factor GATA-5)
M32V (p.Met32Val) 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 0.41 / 1. The record also includes population frequency data and structural context.
M32V (p.Met32Val) variant details
- p.Met32Val
- rs1236049203
- ClinGen CA409557894
- ClinVar RCV003553542
- TOPMed rs1236049203
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.29
- MetaLR 0.37
- MetaSVM -0.38
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available