A26S (p.Ala26Ser) variant of GATA6 (Transcription factor GATA-6)
A26S (p.Ala26Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- cosmic curated COSV99333
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.30
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available