K9T (p.Lys9Thr) variant of HBB (Hemoglobin subunit beta)
K9T (p.Lys9Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN RIO GRANDE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
K9T (p.Lys9Thr) variant details
- p.Lys9Thr
- rs33932981
- ClinGen CA130022
- ClinVar RCV000030668
- UniProt VAR 002870
- other
- HEMOGLOBIN RIO GRANDE
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- ESM-1b 1.00
- AlphaMissense 0.40
- ClinVar: other (HEMOGLOBIN RIO GRANDE)
- EBI: Benign (in Rio Grande)
- UniProt: Benign (in Rio Grande)
- Structural context available
- Cited in: Hemoglobin Deaconess a new deletion mutant: beta131 (H9) glutamine deleted. (PMID 1148000)
- Cited in: Hemoglobin Rio Grande [beta 8 (A5) Lys leads to Thr] a new variant found in a Mexican-American family. (PMID 6857757)