P12A (p.Pro12Ala) variant of HADHB (P55084)
P12A (p.Pro12Ala) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- TOPMed rs1671523943
- gnomAD rs1671523943
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.29
- CADD 12.70
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available