R60Q (p.Arg60Gln) variant of SPTA1 (P02549)
R60Q (p.Arg60Gln) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs750863150
- NCI-TCGA Cosmic COSV6374
- cosmic curated COSV63748
- ExAC rs750863150
- Uncertain significance
- Hereditary spherocytosis type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary spherocytosis type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)