K16M (p.Lys16Met) variant of SPTA1 (P02549)
K16M (p.Lys16Met) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spherocytosis type 3; not provided; Elliptocytosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
K16M (p.Lys16Met) variant details
- p.Lys16Met
- rs201634881
- ClinGen CA1184264
- cosmic curated COSV10746
- ClinVar RCV001098790
- Conflicting interpretations
- Hereditary spherocytosis type 3; not provided; Elliptocytosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 26.00
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spherocytosis type 3; not provided; Elliptocytosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)