R34W (p.Arg34Trp) variant of SPTA1 (P02549)
R34W (p.Arg34Trp) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in EL2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- rs201568233
- NCI-TCGA Cosmic COSV6375
- cosmic curated COSV63752
- UniProt VAR 001330
- Pathogenic
- in EL2
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74). (PMID 8193371)
- Cited in: A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis… (PMID 1541680)