M12R (p.Met12Arg) variant of SLC4A1 (Band 3 anion transport protein)
M12R (p.Met12Arg) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
M12R (p.Met12Arg) variant details
- p.Met12Arg
- TOPMed rs1340195567
- gnomAD rs1340195567
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.08
- CADD 15.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available