P36L (p.Pro36Leu) variant of HADHB (P55084)
P36L (p.Pro36Leu) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- ESP rs376096533
- TOPMed rs376096533
- gnomAD rs376096533
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.34
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available