E17K (p.Glu17Lys) variant of SLC4A1 (Band 3 anion transport protein)
E17K (p.Glu17Lys) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- gnomAD rs1334113918
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.21
- CADD 13.20
- PolyPhen-2 0.11
- SIFT 0.23
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available