Q39R (p.Gln39Arg) variant of HADHB (P55084)
Q39R (p.Gln39Arg) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- ExAC rs765893367
- gnomAD rs765893367
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.52
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.16
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available