R45M (p.Arg45Met) variant of SPTA1 (P02549)
R45M (p.Arg45Met) in SPTA1 (P02549) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in EL2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
R45M (p.Arg45Met) variant details
- p.Arg45Met
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10093
- Variant assessed as somatic; moderate impact.
- in EL2
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in EL2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)