M12I (p.Met12Ile) variant of SLC4A1 (Band 3 anion transport protein)
M12I (p.Met12Ile) 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.
M12I (p.Met12Ile) variant details
- p.Met12Ile
- TOPMed rs1279075319
- gnomAD rs1279075319
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.17
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available