A737V (p.Ala737Val) variant of SLC4A1 (Band 3 anion transport protein)
A737V (p.Ala737Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spherocytosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A737V (p.Ala737Val) variant details
- p.Ala737Val
- rs886052997
- ClinGen CA10639799
- ClinVar RCV003329116
- gnomAD rs886052997
- Pathogenic
- Hereditary spherocytosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.82
- MetaLR 0.72
- MetaSVM 0.62
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary spherocytosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available