p.Ile3delinsThrVal variant of HADHB (P55084)
p.Ile3delinsThrVal in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ile3delinsThrVal variant details
- rs1258501693
- gnomAD 2-26254261-A-ACTG
- Protein Altering
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 26.10
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available