N70H (p.Asn70His) variant of SLC4A1 (Band 3 anion transport protein)
N70H (p.Asn70His) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N70H (p.Asn70His) variant details
- p.Asn70His
- gnomAD rs2047437149
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.27
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available