A112T (p.Ala112Thr) variant of KCNB1 (Q14721)
A112T (p.Ala112Thr) in KCNB1 (Q14721) 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 0.67 / 1. The record also includes population frequency data.
A112T (p.Ala112Thr) variant details
- p.Ala112Thr
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65566
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.59
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)