P12H (p.Pro12His) variant of HADHB (P55084)
P12H (p.Pro12His) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P12H (p.Pro12His) variant details
- p.Pro12His
- gnomAD 2-26254289-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.33
- CADD 18.30
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available