R96S (p.Arg96Ser) variant of SLC4A1 (Band 3 anion transport protein)
R96S (p.Arg96Ser) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R96S (p.Arg96Ser) variant details
- p.Arg96Ser
- 1000Genomes rs538778224
- ExAC rs538778224
- TOPMed rs538778224
- gnomAD rs538778224
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.23
- CADD 19.10
- PolyPhen-2 0.07
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available