M31K (p.Met31Lys) variant of SLC4A1 (Band 3 anion transport protein)
M31K (p.Met31Lys) 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 0.14 / 1. The record also includes population frequency data and structural context.
M31K (p.Met31Lys) variant details
- p.Met31Lys
- 1000Genomes rs55773290
- ExAC rs55773290
- TOPMed rs55773290
- gnomAD rs55773290
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.14
- CADD 2.69
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available