D5A (p.Asp5Ala) variant of STK11 (Q15831)
D5A (p.Asp5Ala) in STK11 (Q15831) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- gnomAD rs1178249537
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.87
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available