V57A (p.Val57Ala) variant of SPTA1 (P02549)
V57A (p.Val57Ala) 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 0.61 / 1. The record also includes population frequency data.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- NCI-TCGA Cosmic COSV6376
- cosmic curated COSV63761
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 22.60
- PolyPhen-2 0.41
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)