G130A (p.Gly130Ala) variant of SLC4A1 (Band 3 anion transport protein)
G130A (p.Gly130Ala) 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 0.42 / 1. The record also includes population frequency data and structural context.
G130A (p.Gly130Ala) variant details
- p.Gly130Ala
- gnomAD rs1270796249
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in SPH4)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available