M11T (p.Met11Thr) variant of SLC4A1 (Band 3 anion transport protein)
M11T (p.Met11Thr) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
M11T (p.Met11Thr) variant details
- p.Met11Thr
- cosmic curated COSV52261
- TOPMed rs1053490380
- gnomAD rs1053490380
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0736
- REVEL 0.08
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available