F12L (p.Phe12Leu) variant of STK11 (Q15831)
F12L (p.Phe12Leu) in STK11 (Q15831) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- Ensembl rs2145404533
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.01
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.56
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available