E109K (p.Glu109Lys) variant of SLC4A1 (Band 3 anion transport protein)
E109K (p.Glu109Lys) in SLC4A1 (Band 3 anion transport protein) 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 0.46 / 1. The record also includes population frequency data and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- rs1308401874
- NCI-TCGA Cosmic COSV5226
- cosmic curated COSV52261
- gnomAD rs1308401874
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.57
- CADD 22.60
- PolyPhen-2 0.94
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available