K69N (p.Lys69Asn) variant of SLC4A1 (Band 3 anion transport protein)
K69N (p.Lys69Asn) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K69N (p.Lys69Asn) variant details
- p.Lys69Asn
- gnomAD rs267604902
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.23
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available