D137N (p.Asp137Asn) variant of SLC4A1 (Band 3 anion transport protein)
D137N (p.Asp137Asn) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D137N (p.Asp137Asn) variant details
- p.Asp137Asn
- gnomAD rs2047433269
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.45
- CADD 24.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available