M27V (p.Met27Val) variant of GATA4 (Transcription factor GATA-4)
M27V (p.Met27Val) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M27V (p.Met27Val) variant details
- p.Met27Val
- cosmic curated COSV58734
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.56
- MetaLR 0.79
- MetaSVM 0.52
- CADD 18.40
- PolyPhen-2 0.09
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available