S106N (p.Ser106Asn) variant of SLC4A1 (Band 3 anion transport protein)
S106N (p.Ser106Asn) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S106N (p.Ser106Asn) variant details
- p.Ser106Asn
- ExAC rs778203864
- gnomAD rs778203864
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.60
- CADD 24.00
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available