M11R (p.Met11Arg) variant of SLC4A1 (Band 3 anion transport protein)
M11R (p.Met11Arg) 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 0.09 / 1. The record also includes population frequency data and structural context.
M11R (p.Met11Arg) variant details
- p.Met11Arg
- rs1053490380
- ClinGen CA290936873
- ClinVar RCV001211036
- TOPMed rs1053490380
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0861
- REVEL 0.10
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available