D137E (p.Asp137Glu) variant of SLC4A1 (Band 3 anion transport protein)
D137E (p.Asp137Glu) in SLC4A1 (Band 3 anion transport protein) is a missense change. 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.
D137E (p.Asp137Glu) variant details
- p.Asp137Glu
- Ensembl rs2047433220
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- CADD 6.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available