Q31K (p.Gln31Lys) variant of HADHB (P55084)
Q31K (p.Gln31Lys) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q31K (p.Gln31Lys) variant details
- p.Gln31Lys
- gnomAD 2-26254456-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.46
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available