P36L (p.Pro36Leu) variant of GATA6 (Transcription factor GATA-6)
P36L (p.Pro36Leu) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs770825513
- NCI-TCGA Cosmic COSV5252
- cosmic curated COSV52525
- ExAC rs770825513
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.29
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available