S37P (p.Ser37Pro) variant of GATA6 (Transcription factor GATA-6)
S37P (p.Ser37Pro) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S37P (p.Ser37Pro) variant details
- p.Ser37Pro
- gnomAD 18-22171253-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.38
- CADD 24.10
- PolyPhen-2 0.76
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available