K18T (p.Lys18Thr) variant of HBB (Hemoglobin subunit beta)
K18T (p.Lys18Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in Nikosia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
K18T (p.Lys18Thr) variant details
- p.Lys18Thr
- rs369865419
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10009
- gnomAD rs369865419
- Variant assessed as somatic; moderate impact.
- in Nikosia
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.86
- MetaSVM 0.96
- CADD 25.30
- UniProt: Variant assessed as somatic; moderate impact. (in Nikosia)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available