D67H (p.Asp67His) variant of SLC4A1 (Band 3 anion transport protein)
D67H (p.Asp67His) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D67H (p.Asp67His) variant details
- p.Asp67His
- ExAC rs762102370
- gnomAD rs762102370
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.53
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available