E60A (p.Glu60Ala) variant of SLC4A1 (Band 3 anion transport protein)
E60A (p.Glu60Ala) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E60A (p.Glu60Ala) variant details
- p.Glu60Ala
- ExAC rs760664657
- gnomAD rs760664657
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available