Q13H (p.Gln13His) variant of KCNJ3 (P48549)
Q13H (p.Gln13His) in KCNJ3 (P48549) 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 0.55 / 1. The record also includes population frequency data and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99715
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.51
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available