K93R (p.Lys93Arg) variant of SPTA1 (P02549)
K93R (p.Lys93Arg) 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 0.53 / 1. The record also includes population frequency data.
K93R (p.Lys93Arg) variant details
- p.Lys93Arg
- rs1167438530
- NCI-TCGA Cosmic COSV6375
- cosmic curated COSV63751
- gnomAD rs1167438530
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 24.50
- PolyPhen-2 0.68
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)