R28H (p.Arg28His) variant of SPTA1 (P02549)
R28H (p.Arg28His) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Prenatal anemia; not provided; Hereditary spherocytosis type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs121918641
- ClinGen CA122759
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6374
- Pathogenic/Likely pathogenic
- Prenatal anemia; not provided; Hereditary spherocytosis type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Prenatal anemia; not provided; Hereditary spherocytosis type 3)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Cited in: Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal… (PMID 1679439)
- Cited in: Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe… (PMID 2043465)