P47P (p.Pro47Pro) variant of HMBS (Porphobilinogen deaminase)
P47P (p.Pro47Pro) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P47P (p.Pro47Pro) variant details
- p.Pro47Pro
- gnomAD 11-119088688-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.16
- CADD 11.20
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available