A56T (p.Ala56Thr) variant of KCNA1 (Q09470)
A56T (p.Ala56Thr) in KCNA1 (Q09470) 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 0.40 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- NCI-TCGA Cosmic COSV6683
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available