E30K (p.Glu30Lys) variant of SPTA1 (P02549)
E30K (p.Glu30Lys) in SPTA1 (P02549) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs766853527
- NCI-TCGA Cosmic COSV6374
- cosmic curated COSV63749
- ExAC rs766853527
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)