P28S (p.Pro28Ser) variant of GATA6 (Transcription factor GATA-6)
P28S (p.Pro28Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- cosmic curated COSV10728
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.35
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available