D30H (p.Asp30His) variant of STK11 (Q15831)
D30H (p.Asp30His) in STK11 (Q15831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D30H (p.Asp30His) variant details
- p.Asp30His
- Ensembl rs2145404834
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.78
- MetaLR 0.68
- MetaSVM 0.49
- CADD 32.00
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available