S40P (p.Ser40Pro) variant of GATA6 (Transcription factor GATA-6)
S40P (p.Ser40Pro) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S40P (p.Ser40Pro) variant details
- p.Ser40Pro
- gnomAD 18-22171262-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available