K12R (p.Lys12Arg) variant of GATA6 (Transcription factor GATA-6)
K12R (p.Lys12Arg) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- cosmic curated COSV10500
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.44
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available