M11I (p.Met11Ile) variant of SLC4A1 (Band 3 anion transport protein)
M11I (p.Met11Ile) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
M11I (p.Met11Ile) variant details
- p.Met11Ile
- rs764087255
- ClinGen CA8600746
- ClinVar RCV001959398
- ExAC rs764087255
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.14
- CADD 7.57
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available