P38S (p.Pro38Ser) variant of GATA6 (Transcription factor GATA-6)
P38S (p.Pro38Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- cosmic curated COSV10587
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.77
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available