H47N (p.His47Asn) variant of SLC4A1 (Band 3 anion transport protein)
H47N (p.His47Asn) 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 0.08 / 1. The record also includes population frequency data and structural context.
H47N (p.His47Asn) variant details
- p.His47Asn
- TOPMed rs895769487
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0791
- REVEL 0.09
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available