P36Q (p.Pro36Gln) variant of HADHB (P55084)
P36Q (p.Pro36Gln) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- gnomAD 2-26254468-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 23.80
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available