F4L (p.Phe4Leu) variant of SPTA1 (P02549)
F4L (p.Phe4Leu) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs753495645
- ClinGen CA1184299
- ClinVar RCV000262000
- ClinVar RCV000320939
- Uncertain significance
- Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0796
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)