A4P (p.Ala4Pro) variant of FH (P07954)
A4P (p.Ala4Pro) in FH (P07954) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- TOPMed rs1573890047
- gnomAD rs1573890047
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.60
- CADD 12.40
- PolyPhen-2 0.10
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available