K56R (p.Lys56Arg) variant of SLC4A1 (Band 3 anion transport protein)
K56R (p.Lys56Arg) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- 1000Genomes rs542327721
- ExAC rs542327721
- gnomAD rs542327721
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in Di(a)/Memphis-II antigen)
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available