p.Met1 Thr2insAla variant of HADHB (P55084)
p.Met1 Thr2insAla in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Met1 Thr2insAla variant details
- rs1064793144
- gnomAD 2-26254257-G-GGCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 19.60
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)