K48R (p.Lys48Arg) variant of SPTA1 (P02549)
K48R (p.Lys48Arg) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes population frequency data and published literature.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- rs121918644
- ClinGen CA122761
- cosmic curated COSV63753
- ClinVar RCV000013716
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in HPP)
- UniProt: Pathogenic (in HPP)
- Most common in the African/African-American population (allele frequency 0.00036)
- Cited in: A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (PMID 1845156)
- Cited in: Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with… (PMID 1878597)