M31R (p.Met31Arg) variant of SLC4A1 (Band 3 anion transport protein)
M31R (p.Met31Arg) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
M31R (p.Met31Arg) variant details
- p.Met31Arg
- 1000Genomes rs55773290
- ExAC rs55773290
- TOPMed rs55773290
- gnomAD rs55773290
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- CADD 7.28
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available