S41P (p.Ser41Pro) variant of GATA6 (Transcription factor GATA-6)
S41P (p.Ser41Pro) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S41P (p.Ser41Pro) variant details
- p.Ser41Pro
- gnomAD 18-22171265-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.28
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available