R45K (p.Arg45Lys) variant of SPTA1 (P02549)
R45K (p.Arg45Lys) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
R45K (p.Arg45Lys) variant details
- p.Arg45Lys
- rs374697328
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- ESP rs374697328
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 22.40
- PolyPhen-2 0.11
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in EL2)
- UniProt: Uncertain significance (in EL2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)