R41W (p.Arg41Trp) variant of SPTA1 (P02549)
R41W (p.Arg41Trp) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Elliptocytosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs121918640
- ClinGen CA122755
- cosmic curated COSV63754
- ClinVar RCV000013706
- Pathogenic
- Elliptocytosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 24.80
- PolyPhen-2 0.52
- SIFT 0.19
- ClinVar: Pathogenic (Elliptocytosis 2)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at… (PMID 2568861)
- Cited in: A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis… (PMID 1541680)