T44K (p.Thr44Lys) variant of SLC4A1 (Band 3 anion transport protein)
T44K (p.Thr44Lys) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T44K (p.Thr44Lys) variant details
- p.Thr44Lys
- ExAC rs756472075
- TOPMed rs756472075
- gnomAD rs756472075
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.13
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.54
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available