E2K (p.Glu2Lys) variant of SLC4A1 (Band 3 anion transport protein)
E2K (p.Glu2Lys) 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 0.36 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs777378002
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99293
- ExAC rs777378002
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available