M12T (p.Met12Thr) variant of SLC4A1 (Band 3 anion transport protein)
M12T (p.Met12Thr) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
M12T (p.Met12Thr) variant details
- p.Met12Thr
- TOPMed rs1340195567
- gnomAD rs1340195567
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.05
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available