M31I (p.Met31Ile) variant of SLC4A1 (Band 3 anion transport protein)
M31I (p.Met31Ile) 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 Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
M31I (p.Met31Ile) variant details
- p.Met31Ile
- TOPMed rs879106259
- gnomAD rs879106259
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.09
- CADD 5.44
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOO)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available