A14T (p.Ala14Thr) variant of KCNA1 (Q09470)
A14T (p.Ala14Thr) 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 0.43 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- NCI-TCGA Cosmic COSV6683
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.22
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available